926:
249:, usually those involved in making muscle proteins. The muscle protein, dystrophin, is in most muscle cells and works to strengthen the muscle fibers and protect them from injury as muscles contract and relax. It links the muscle membrane to the thin muscular filaments within the cell. Dystrophin is an integral part of the muscular structure. An absence of dystrophin can cause impairments: healthy muscle tissue can be replaced by fibrous tissue and fat, causing an inability to generate force. Respiratory and cardiac complications can occur as well. These mutations are either
2877:
43:
2536:
391:
977:
Occupational therapy may implement changes to a person's environment, both at home or work, to increase the individual's function and accessibility; furthermore, it addresses psychosocial changes and cognitive decline which may accompany MD, and provides support and education about the disease to the family and individual.
985:
Prognosis depends on the individual form of muscular dystrophy. Some dystrophies cause progressive weakness and loss of muscle function, which may result in severe physical disability and a life-threatening deterioration of respiratory muscles or heart. Other dystrophies do not affect life expectancy
972:
Low-intensity, assisted exercises, dynamic exercise training, or assisted bicycle training of the arms and legs during a 24-week trial significantly delayed the functional loss of muscular dystrophy. It can be done in a safe and feasible manner, even with boys late in their ambulation stage. However,
673:
The most common childhood form of muscular dystrophy, affects predominantly boys (mild symptoms may occur in female carriers). Characterised by progressive muscle wasting. Clinical symptoms become evident when the child begins walking. By age 10, the child may need braces and by age 12, most patients
628:
Several forms of the congenital muscular dystrophies are caused by defects in proteins thought to have some relationship to the dystrophin-glycoprotein complex and to the connections between muscle cells and their surrounding cellular structure. Some forms of congenital muscular dystrophy show severe
976:
Occupational therapy assists the individual with MD to engage in activities of daily living (such as self-feeding and self-care activities) and leisure activities at the most independent level possible. This may be achieved with use of adaptive equipment or the use of energy-conservation techniques.
793:
Causes progressive weakness, initially in the muscles of the face, shoulders, and upper arms. Additional muscles are often affected. Affected individuals can become severely disabled, with 20% requiring a wheelchair by age 50. 30% of cases involve spontaneous mutations. Penetrance and severity seem
2608:
2593:
2578:
1025:, significant in raising awareness of muscular dystrophy in North America. Disability rights advocates, however, have criticized the telethon for portraying those living with the disease as deserving pity rather than respect.
1349:
El-Sobky, Tamer A.; Abdulhady, Hala; Mahmoud, Shady; Amen, John (31 January 2024). "Orthopedic manifestations of congenital muscular dystrophy subtypes in children: Emerging signatures need consolidation: a scoping review".
876:(delayed relaxation of muscles), as well as muscle wasting and weakness. Varies in severity and manifestations and affects many body systems in addition to skeletal muscles, including the heart, endocrine organs, and eyes.
515:
An MRI can be used to assess the white matter of the nervous system and measure the merosin levels in young boys. An absence of merosin in young boys will result with neurological deficits and changes in the white matter.
2913:
994:
In the 1860s, descriptions of boys who grew progressively weaker, lost the ability to walk, and died at an early age became more prominent in medical journals. In the following decade, French neurologist
757:
Symptoms include muscle weakness and wasting, starting in the distal limb muscles and progressing to involve the limbâgirdle muscles. Most patients also have cardiac conduction defects and arrhythmias.
367:
Outcomes depend on the specific type of disorder. Many affected people will eventually become unable to walk and
Duchenne muscular dystrophy in particular is associated with shortened life expectancy.
207:
over time. The disorders differ as to which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Some types are also associated with problems in other
512:. A physical examination and the patient's medical history will help the doctor determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy.
3386:
2241:
Jansen, Merel; Van Alfen, Nens; Geurts, Alexander C. H.; De Groot, Imelda J. M. (2013). "Assisted
Bicycle Training Delays Functional Deterioration in Boys with Duchenne Muscular Dystrophy".
961:
may be needed to improve the quality of life in some cases. The cardiac problems that occur with EmeryâDreifuss muscular dystrophy (EDMD) and myotonic muscular dystrophy may require a
2906:
2355:
3522:
1377:
Birnkrant, DJ; Bushby, K; Bann, CM; Alman, BA; Apkon, SD; Blackwell, A; Case, LE; Cripe, L; Hadjiyannakis, S; Olson, AK; Sheehan, DW; Bolen, J; Weber, DR; Ward, LM (April 2018).
3357:
715:
Miyoshi myopathy, one of the distal muscular dystrophies, causes initial weakness in the calf muscles, and is caused by defects in the same gene responsible for one form of
2899:
2075:
1532:
2350:
3381:
2701:
621:
Congenital muscular dystrophy includes several disorders with a range of symptoms. Muscle degeneration may be mild or severe. Problems may be restricted to
1616:
284:
There is no cure for any disorder from the muscular dystrophy group. Several drugs designed to address the root cause are currently available including
3411:
218:(DMD) accounts for approximately 50% of cases and affects males beginning around the age of four. Other relatively common muscular dystrophies include
1825:
1037:
969:(delayed relaxation of a muscle after a strong contraction) occurring in myotonic muscular dystrophy may be treated with medications such as quinine.
925:
1796:
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1486:
1050:
1021:
764:
223:
105:
3119:
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726:
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2999:
2424:
2293:
2225:
1735:
1236:
1697:
1938:
1189:
2284:
Lehman, R. M.; McCormack, G. L. (2001). "Neurogenic and
Myopathic Dysfunction". In Pedretti, Lorraine Williams; Early, Mary Beth (eds.).
1908:
2761:
800:
716:
231:
109:
3168:
3022:
2778:
882:
2405:
1295:
2006:
Bird, T. D.; Adam, M. P.; Everman, D. B.; Mirzaa, G. M.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Gripp, K. W.; Amemiya, A. (1993).
2105:
2694:
1379:"Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management"
3284:
904:
816:
746:
702:
619:
Symptoms include general muscle weakness and possible joint deformities. Disease progresses slowly, and lifespan is shortened.
608:
3352:
3272:
3060:
3017:
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2943:
2939:
2794:
1668:
1065:
1012:
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861:
812:
782:
742:
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662:
604:
571:
3107:
2734:
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2805:
2724:
1628:
1124:
999:
gave a comprehensive account of the most common and severe form of the disease, which now carries his name â Duchenne MD.
827:
The person normally leads a normal life with some assistance. Rare cardiopulmonary complications can be life-threatening.
592:
333:
235:
2067:
2023:
1524:
3160:
3154:
2891:
289:
3080:
1426:
BÄdilÄ, E; Lungu, II; Grumezescu, AM; Scafa UdriČte, A; Rosenthal, David; Duboc, Denis; Melacini, Paola (12 May 2021).
3517:
3112:
2880:
2739:
2687:
1555:
833:
644:
583:
215:
97:
2311:"Molecular Diagnosis of Duchenne Muscular Dystrophy: Past, Present and Future in Relation to Implementing Therapies"
3376:
3037:
2800:
2746:
1076:
1071:
1033:
680:
553:
219:
101:
973:
eccentric exercises, or intense exercises causing soreness should not be used as they can cause further damage.
3347:
2627:
2379:
1507:
Griffiths, Anthony JF; Miller, Jeffrey H.; Suzuki, David T.; Lewontin, Richard C.; Gelbart, William M. (2000).
317:
1759:
1613:
2218:
Caring for
Children with Special Healthcare Needs and Their Families: A Handbook for Healthcare Professionals
674:
are unable to walk. Typical lifespans range from 15 to 45. Sporadic mutations in this gene occur frequently.
3459:
2551:
849:
64:
1817:
3362:
3255:
3174:
2927:
501:
3487:
2931:
1060:
419:
200:
1788:
3300:
962:
938:
482:
357:
174:
1478:
3492:
3469:
3441:
3429:
3047:
2612:
942:
474:
266:
258:
131:
2421:
1689:
3436:
3338:
3264:
3226:
3092:
3032:
3009:
2773:
2266:
2038:
1988:
1591:
1055:
996:
958:
945:), speech therapy, and respiratory therapy may be helpful. Low intensity corticosteroids such as
478:
270:
262:
227:
135:
127:
113:
71:
1197:
3416:
3397:
3188:
2958:
2810:
2656:
2587:
2515:
2472:
2332:
2289:
2258:
2221:
2198:
2149:
2015:
1980:
1934:
1900:
1882:
1741:
1731:
1583:
1575:
1459:
1408:
1311:
1291:
1252:
1232:
361:
293:
143:
59:
2167:
Verhaert, David; Richards, Kathryn; Rafael-Fortney, Jill A.; Raman, Subha V. (January 2011).
2128:"The Canadian experience with long term deflazacort treatment in Duchenne muscular dystrophy"
3446:
3146:
3140:
2729:
2505:
2497:
2462:
2322:
2250:
2188:
2180:
2139:
1970:
1872:
1864:
1723:
1567:
1449:
1439:
1398:
1390:
1359:
1301:
1283:
1242:
1224:
934:
505:
349:
345:
254:
204:
166:
162:
77:
3248:
3231:
2827:
2428:
2409:
2402:
2050:
1640:
1620:
1329:
625:, or muscle degeneration may be paired with effects on the brain and other organ systems.
622:
509:
325:
278:
158:
148:
2845:
2484:
Bertini, Enrico; D'Amico, Adele; Gualandi, Francesca; Petrini, Stefania (December 2011).
438:
2541:
1036:
to provide research for the various muscular dystrophies. This law also established the
50:
In affected muscle (right), the tissue has become disorganized and the concentration of
3371:
3366:
3324:
3236:
2667:
2510:
2485:
2467:
2450:
2327:
2310:
2193:
2168:
2144:
2127:
1877:
1852:
1727:
1454:
1427:
1403:
1378:
1306:
1247:
453:
305:
2621:
2617:
1571:
1394:
3511:
3243:
3205:
3055:
2968:
2839:
2766:
2412:: MD-CARE Act, GovTrack.us (database of federal legislation), (accessed Jul 29, 2007)
2309:
Laing, Nigel G; Davis, Mark R; Bayley, Klair; Fletcher, Sue; Wilton, Steve D (2011).
1955:
634:
630:
497:
433:
425:
1595:
3423:
3182:
2451:"Drug treatment of Duchenne musculardystrophy: available evidence and perspectives"
2270:
2184:
2097:
1992:
395:
371:
285:
208:
2126:
McAdam, Laura C.; Mayo, Amanda L.; Alman, Benjamin A.; Biggar, W. Douglas (2012).
1660:
17:
2632:
1868:
3405:
2651:
1624:
1029:
1008:
950:
670:
Distal limbs progressing to generalised weakness, involving respiratory muscles
447:
341:
309:
274:
42:
2501:
1508:
1132:
238:
are themselves groups of several â usually extremely rare â genetic disorders.
3193:
3101:
2952:
2862:
2602:
2007:
1760:"OMIM Entry - # 310300 - EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1"
946:
656:
565:
337:
313:
301:
214:
Over 30 different disorders are classified as muscular dystrophies. Of those,
51:
2254:
1975:
1579:
1444:
481:). In a small percentage of patients, the disorder may have been caused by a
2662:
1645:
1334:
1016:
933:
Currently, there is no cure for muscular dystrophy. In terms of management,
692:
413:
390:
321:
181:
2519:
2476:
2336:
2262:
2202:
2153:
2019:
1984:
1886:
1745:
1587:
1463:
1412:
1363:
1315:
1272:"The Dystrophin Complex: Structure, Function, and Implications for Therapy"
1256:
1901:"Facioscapulohumeral muscular dystrophy: MedlinePlus Medical Encyclopedia"
1271:
469:; the different muscular dystrophies follow various inheritance patterns (
3219:
2985:
1690:"Duchenne Muscular Dystrophy. What is muscular dystrophy? | Patient"
1287:
1228:
966:
954:
873:
470:
466:
297:
250:
242:
123:
2570:
353:
329:
170:
2449:
De Los
Angeles BeytĂa, Maria; Vry, Julia; Kirschner, Janbernd (2012).
3328:
2923:
2679:
2597:
2582:
1040:
to help focus research efforts through a coherent research strategy.
894:
1767:
1818:"facioscapulohumeral muscular dystrophy - Genetics Home Reference"
389:
1655:
1653:
1219:
Gao, Q. Q.; McNally, E. M. (2011-01-17). Terjung, Ronald (ed.).
888:
855:
843:
839:
776:
770:
686:
650:
559:
530:
246:
2895:
2683:
1661:"Duchenne muscular dystrophy: MedlinePlus Medical Encyclopedia"
496:
The diagnosis of muscular dystrophy is based on the results of
199:) are a genetically and clinically heterogeneous group of rare
2432:
2286:
Occupational
Therapy: Practice Skills for Physical Dysfunction
402:
The signs and symptoms consistent with muscular dystrophy are:
1863:(6, Muscle and Neuromuscular Junction Disorders): 1916â1931.
1789:"Emery-Dreifuss muscular dystrophy - Genetics Home Reference"
54:(green) is greatly reduced, compared to normal muscle (left).
1428:"Diagnosis of Cardiac Abnormalities in Muscular Dystrophies"
2169:"Cardiac Involvement in Patients With Muscular Dystrophies"
1846:
1844:
1842:
1627:, as submitted by Department of Health and Human Service's
1609:
1607:
1605:
790:
Face, shoulders, upper arms, progressing to other muscles
2012:
Myotonic
Dystrophy Type 1 - GeneReviewsÂŽ - NCBI Bookshelf
1933:. Brentwood, Essex: Multi-Science Publ. Co. p. 121.
957:(orthopedic appliances used for support) and corrective
2356:
National
Institute of Neurological Disorders and Stroke
1223:. Vol. 5 (1 ed.). Wiley. pp. 1223â1239.
370:
Muscular dystrophy was first described in the 1830s by
27:
Diseases in which skeletal muscle breaks down over time
2380:"The End of the Jerry Lewis TelethonâIt's About Time"
324:); to slow skeletal and cardiac muscle degeneration,
2560:
1956:"The myotonic dystrophies: diagnosis and management"
3480:
3396:
3337:
3313:
3293:
3263:
3218:
3204:
3132:
3091:
3046:
3008:
2993:
2984:
2938:
2855:
2820:
2787:
2717:
2642:
2564:
1963:
Journal of
Neurology, Neurosurgery & Psychiatry
1718:Udd, Bjarne (2011). "Distal muscular dystrophies".
444:
Calf deformation as in
Duchenne muscular dystrophy.
180:
154:
142:
119:
92:
84:
70:
58:
35:
1270:Gao, Quan Q.; McNally, Elizabeth M. (2015-06-24).
2486:"Congenital Muscular Dystrophies: A Brief Review"
2068:"What are the treatments for muscular dystrophy?"
710:Distal muscles in hands, forearms and lower legs
579:Distal limbs progressing to generalised weakness
203:that cause progressive weakness and breakdown of
1352:Journal of Musculoskeletal Surgery and Research
3523:Myoneural junction and neuromuscular diseases
2907:
2695:
1344:
1342:
1032:was signed into law in the US; it amends the
912:Eye muscles, face, throat, pelvis, shoulders
869:Skeletal muscles, heart, other muscle groups
422:leads to limited range of movement of joints.
416:(abnormal curvature of the spine or the back)
8:
1184:
1182:
1180:
1178:
1176:
1174:
1172:
1170:
374:. The word "dystrophy" comes from the Greek
2351:"Muscular Dystrophy: Hope Through Research"
1525:"NIH /How is muscular dystrophy diagnosed?"
1479:"Muscular dystrophy - Causes - NHS Choices"
1190:"Muscular Dystrophy: Hope Through Research"
1168:
1166:
1164:
1162:
1160:
1158:
1156:
1154:
1152:
1150:
1125:"NINDS Muscular Dystrophy Information Page"
986:and only cause relatively mild impairment.
713:Progress is slow and not life-threatening.
3215:
3005:
2990:
2914:
2900:
2892:
2702:
2688:
2680:
2561:
1119:
1117:
1115:
1113:
794:to be lower in females compared to males.
360:may be required in those with weakness of
41:
32:
2509:
2466:
2326:
2192:
2143:
1974:
1876:
1453:
1443:
1402:
1305:
1246:
1111:
1109:
1107:
1105:
1103:
1101:
1099:
1097:
1095:
1093:
1038:Muscular Dystrophy Coordinating Committee
465:The majority of muscular dystrophies are
1853:"Facioscapulohumeral Muscular Dystrophy"
1851:Statland, JM; Tawil, R (December 2016).
1330:Muscular Dystrophy Clinical Presentation
924:
754:Distal limb muscles, limb-girdle, heart
523:
2288:(5th ed.). Mosby. pp. 802â3.
2062:
2060:
1089:
2046:
2036:
1641:Congenital Muscular Dystrophy~clinical
1051:Fukuyama congenital muscular dystrophy
765:Facioscapulohumeral muscular dystrophy
304:etc.). Other medications used include
224:facioscapulohumeral muscular dystrophy
106:facioscapulohumeral muscular dystrophy
2243:Neurorehabilitation and Neural Repair
2098:"Muscular Dystrophy-OrthoInfo - AAOS"
2014:. University of Washington, Seattle.
1954:Turner, C.; Hilton-Jones, D. (2010).
7:
2788:National/International Organizations
2173:Circulation: Cardiovascular Imaging
241:Muscular dystrophies are caused by
76:Increasing weakening, breakdown of
3175:BIN1-linked centronuclear myopathy
1728:10.1016/B978-0-08-045031-5.00016-5
1722:. Vol. 101. pp. 239â62.
953:may help to maintain muscle tone.
883:Oculopharyngeal muscular dystrophy
441:as in Duchenne muscular dystrophy.
356:may help with some symptoms while
186:Depends on the particular disorder
25:
3456:Testosterone deficiency myopathy
2964:LambertâEaton myasthenic syndrome
2078:from the original on 7 April 2016
1535:from the original on 7 April 2016
727:EmeryâDreifuss muscular dystrophy
3412:KocherâDebreâSemelaigne syndrome
3061:Limb-girdle muscular dystrophy 2
3018:Limb-girdle muscular dystrophy 1
2876:
2875:
2534:
398:indicative of muscular dystrophy
2490:Seminars in Pediatric Neurology
2403:H.R. 717--107th Congress (2001)
2315:The Clinical Biochemist Reviews
2108:from the original on 2016-04-12
2026:from the original on 2017-01-18
1911:from the original on 2016-07-04
1828:from the original on 2017-03-24
1799:from the original on 2017-03-12
1700:from the original on 2016-12-02
1671:from the original on 2017-04-05
1489:from the original on 2016-04-02
1196:. March 4, 2016. Archived from
1131:. March 4, 2016. Archived from
941:, orthotic intervention (e.g.,
751:Childhood, early teenage years
3353:Fatty-acid metabolism disorder
2976:Congenital myasthenic syndrome
2795:Muscular Dystrophy Association
2762:Limbâgirdle muscular dystrophy
2185:10.1161/CIRCIMAGING.110.960740
1857:Continuum (Minneapolis, Minn.)
1720:Handbook of Clinical Neurology
1066:Muscular Dystrophy Association
1013:Muscular Dystrophy Association
1007:In 1966 in the US and Canada,
801:Limbâgirdle muscular dystrophy
717:limbâgirdle muscular dystrophy
586:, affects predominantly boys.
334:Histone deacetylase inhibitors
332:and some muscle activity, and
261:. Muscular dystrophies may be
232:limbâgirdle muscular dystrophy
110:limbâgirdle muscular dystrophy
1:
3465:Hypogonadotropic hypogonadism
2821:National/International Events
2806:Myotonic Dystrophy Foundation
1931:Sports Science Handbook:I - Z
1629:National Institutes of Health
1572:10.1016/S0140-6736(02)07815-7
1554:Emery, Alan EH (2002-02-23).
1395:10.1016/S1474-4422(18)30025-5
629:brain malformations, such as
593:Congenital muscular dystrophy
430:Progressive inability to walk
236:congenital muscular dystrophy
1929:Jenkins, Simon P.R. (2005).
1869:10.1212/CON.0000000000000399
1432:Medicina (Kaunas, Lithuania)
407:Progressive muscular wasting
394:Severe limb deformities and
2008:"Myotonic Dystrophy Type 1"
1614:May 2006 report to Congress
834:Myotonic muscular dystrophy
645:Duchenne muscular dystrophy
584:Duchenne muscular dystrophy
340:) to delay damage to dying
273:. Diagnosis often involves
216:Duchenne muscular dystrophy
98:Duchenne muscular dystrophy
3539:
2502:10.1016/j.spen.2011.10.010
2378:Berman, Ari (2011-09-02).
1556:"The muscular dystrophies"
1028:On December 18, 2001, the
3442:Hyperparathyroid myopathy
2871:
2801:Muscular Dystrophy Canada
2220:. John Wiley & Sons.
1623:on Implementation of the
1077:Spinal muscular atrophies
1072:Muscular Dystrophy Canada
1034:Public Health Service Act
681:Distal muscular dystrophy
582:A less severe variant of
554:Becker muscular dystrophy
220:Becker muscular dystrophy
102:Becker muscular dystrophy
49:
40:
3437:Hypoparathyroid myopathy
3348:Glycogen storage disease
2431:, PDF as retrieved from
2255:10.1177/1545968313496326
1976:10.1136/jnnp.2008.158261
1445:10.3390/medicina57050488
1276:Comprehensive Physiology
1221:Comprehensive Physiology
1022:The Jerry Lewis Telethon
378:, meaning "no, un-" and
318:calcium channel blockers
3460:Late-onset hypogonadism
3451:Corticosteroid myopathy
3169:adaptor protein disease
2216:Eddy, Linda L. (2013).
1015:(MDA) began the annual
3363:Mitochondrial myopathy
3256:Paramyotonia congenita
2928:neuromuscular junction
1364:10.25259/JMSR_229_2023
930:
502:creatine phosphokinase
486:(spontaneous) mutation
399:
251:inherited from parents
201:neuromuscular diseases
65:Neuromuscular medicine
3488:Inflammatory myopathy
2932:neuromuscular disease
1510:Spontaneous mutations
1383:The Lancet. Neurology
1061:Muscular Dystrophy UK
928:
616:Generalised weakness
393:
3301:Central core disease
3183:cytoskeleton disease
2863:Stamulumab (MYO-029)
2836:(defunct; US/Canada)
1288:10.1002/cphy.c140048
1229:10.1002/cphy.c140048
1200:on 30 September 2016
939:occupational therapy
824:Upper arms and legs
538:Inheritance pattern
358:assisted ventilation
193:Muscular dystrophies
175:assisted ventilation
3493:Congenital myopathy
3470:Androgen deficiency
3430:Thyrotoxic myopathy
3028:Facioscapulohumeral
2757:Facioscapulohumeral
1003:Society and culture
943:ankle-foot orthosis
929:Ankle foot orthosis
475:autosomal recessive
382:meaning "nourish".
267:autosomal recessive
132:autosomal recessive
96:> 30, including
3518:Muscular dystrophy
3339:Metabolic myopathy
3265:Periodic paralysis
3227:Myotonia congenita
2995:Muscular dystrophy
2834:Labor Day Telethon
2711:Muscular dystrophy
2643:External resources
2552:Muscular dystrophy
2427:2012-11-07 at the
2408:2012-02-19 at the
2102:orthoinfo.aaos.org
1619:2014-04-05 at the
1056:Muscle hypertrophy
997:Guillaume Duchenne
959:orthopedic surgery
931:
479:autosomal dominant
420:Muscle Contracture
400:
386:Signs and symptoms
271:autosomal dominant
263:X-linked recessive
228:myotonic dystrophy
136:autosomal dominant
128:X-linked recessive
114:myotonic dystrophy
36:Muscular dystrophy
18:Muscular Dystrophy
3505:
3504:
3501:
3500:
3417:Hoffmann syndrome
3309:
3308:
3189:Nemaline myopathy
3128:
3127:
2959:Myasthenia gravis
2889:
2888:
2811:Muskelsvindfonden
2677:
2676:
2422:Public Law 107-84
2295:978-0-323-00765-8
2227:978-1-118-51797-0
1737:978-0-08-045031-5
1566:(9307): 687â695.
1238:978-0-470-65071-4
918:
917:
544:Muscles affected
362:breathing muscles
352:, and corrective
259:early development
190:
189:
144:Diagnostic method
80:, trouble walking
30:Medical condition
16:(Redirected from
3530:
3447:Hypercortisolism
3358:AMPD1 deficiency
3314:ATPase disorder
3216:
3147:Bethlem myopathy
3141:collagen disease
3133:Other structural
3006:
2991:
2944:junction disease
2916:
2909:
2902:
2893:
2879:
2878:
2730:Dystrophinopathy
2704:
2697:
2690:
2681:
2562:
2538:
2537:
2523:
2513:
2480:
2470:
2436:
2419:
2413:
2400:
2394:
2393:
2391:
2390:
2375:
2369:
2368:
2366:
2364:
2347:
2341:
2340:
2330:
2306:
2300:
2299:
2281:
2275:
2274:
2238:
2232:
2231:
2213:
2207:
2206:
2196:
2164:
2158:
2157:
2147:
2123:
2117:
2116:
2114:
2113:
2094:
2088:
2087:
2085:
2083:
2064:
2055:
2054:
2048:
2044:
2042:
2034:
2032:
2031:
2003:
1997:
1996:
1978:
1960:
1951:
1945:
1944:
1940:978-0906522-37-0
1926:
1920:
1919:
1917:
1916:
1897:
1891:
1890:
1880:
1848:
1837:
1836:
1834:
1833:
1814:
1808:
1807:
1805:
1804:
1785:
1779:
1778:
1776:
1775:
1766:. Archived from
1756:
1750:
1749:
1715:
1709:
1708:
1706:
1705:
1686:
1680:
1679:
1677:
1676:
1657:
1648:
1637:
1631:
1611:
1600:
1599:
1551:
1545:
1544:
1542:
1540:
1521:
1515:
1514:
1504:
1498:
1497:
1495:
1494:
1474:
1468:
1467:
1457:
1447:
1423:
1417:
1416:
1406:
1374:
1368:
1367:
1346:
1337:
1326:
1320:
1319:
1309:
1282:(3): 1223â1239.
1267:
1261:
1260:
1250:
1216:
1210:
1209:
1207:
1205:
1186:
1145:
1144:
1142:
1140:
1121:
935:physical therapy
524:
506:electromyography
346:Physical therapy
205:skeletal muscles
163:physical therapy
78:skeletal muscles
45:
33:
21:
3538:
3537:
3533:
3532:
3531:
3529:
3528:
3527:
3508:
3507:
3506:
3497:
3476:
3392:
3333:
3305:
3289:
3259:
3249:Isaacs syndrome
3232:Thomsen disease
3200:
3124:
3087:
3042:
3023:Oculopharyngeal
2997:
2980:
2942:
2934:
2920:
2890:
2885:
2867:
2856:Clinical trials
2851:
2828:MDA Muscle Walk
2816:
2783:
2779:Oculopharyngeal
2713:
2708:
2678:
2673:
2672:
2638:
2637:
2573:
2559:
2558:
2557:
2539:
2535:
2530:
2483:
2448:
2445:
2443:Further reading
2440:
2439:
2429:Wayback Machine
2420:
2416:
2410:Wayback Machine
2401:
2397:
2388:
2386:
2377:
2376:
2372:
2362:
2360:
2359:. 23 March 2020
2349:
2348:
2344:
2308:
2307:
2303:
2296:
2283:
2282:
2278:
2240:
2239:
2235:
2228:
2215:
2214:
2210:
2166:
2165:
2161:
2125:
2124:
2120:
2111:
2109:
2096:
2095:
2091:
2081:
2079:
2066:
2065:
2058:
2045:
2035:
2029:
2027:
2005:
2004:
2000:
1958:
1953:
1952:
1948:
1941:
1928:
1927:
1923:
1914:
1912:
1899:
1898:
1894:
1850:
1849:
1840:
1831:
1829:
1822:Ghr.nlm.nih.gov
1816:
1815:
1811:
1802:
1800:
1793:Ghr.nlm.nih.gov
1787:
1786:
1782:
1773:
1771:
1758:
1757:
1753:
1738:
1717:
1716:
1712:
1703:
1701:
1688:
1687:
1683:
1674:
1672:
1665:medlineplus.gov
1659:
1658:
1651:
1638:
1634:
1621:Wayback Machine
1612:
1603:
1553:
1552:
1548:
1538:
1536:
1523:
1522:
1518:
1506:
1505:
1501:
1492:
1490:
1476:
1475:
1471:
1425:
1424:
1420:
1376:
1375:
1371:
1348:
1347:
1340:
1327:
1323:
1298:
1269:
1268:
1264:
1239:
1218:
1217:
1213:
1203:
1201:
1188:
1187:
1148:
1138:
1136:
1135:on 30 July 2016
1123:
1122:
1091:
1086:
1081:
1068:(United States)
1046:
1005:
992:
983:
923:
853:
842:
623:skeletal muscle
522:
510:genetic testing
494:
463:
458:
388:
326:anticonvulsants
306:glucocorticoids
294:antisense drugs
279:genetic testing
159:Pharmacotherapy
149:Genetic testing
31:
28:
23:
22:
15:
12:
11:
5:
3536:
3534:
3526:
3525:
3520:
3510:
3509:
3503:
3502:
3499:
3498:
3496:
3495:
3490:
3484:
3482:
3478:
3477:
3475:
3474:
3473:
3472:
3467:
3462:
3454:
3453:
3452:
3444:
3439:
3434:
3433:
3432:
3421:
3420:
3419:
3414:
3402:
3400:
3398:Endocrinopathy
3394:
3393:
3391:
3390:
3384:
3379:
3374:
3369:
3360:
3355:
3350:
3343:
3341:
3335:
3334:
3332:
3322:
3320:
3319:
3318:
3311:
3310:
3307:
3306:
3304:
3303:
3297:
3295:
3291:
3290:
3288:
3287:
3282:
3281:
3280:
3269:
3267:
3261:
3260:
3258:
3253:
3252:
3251:
3241:
3240:
3239:
3237:Becker disease
3234:
3224:
3222:
3213:
3212:
3211:
3202:
3201:
3199:
3198:
3197:
3196:
3191:
3179:
3178:
3177:
3165:
3164:
3163:
3151:
3150:
3149:
3136:
3134:
3130:
3129:
3126:
3125:
3123:
3122:
3120:EmeryâDreifuss
3117:
3116:
3115:
3110:
3097:
3095:
3089:
3088:
3086:
3085:
3084:
3083:
3081:WalkerâWarburg
3078:
3073:
3063:
3058:
3052:
3050:
3044:
3043:
3041:
3040:
3035:
3030:
3025:
3020:
3014:
3012:
3003:
2988:
2982:
2981:
2979:
2978:
2973:
2972:
2971:
2966:
2961:
2948:
2946:
2940:Neuromuscular-
2936:
2935:
2921:
2919:
2918:
2911:
2904:
2896:
2887:
2886:
2884:
2883:
2872:
2869:
2868:
2866:
2865:
2859:
2857:
2853:
2852:
2850:
2849:
2843:
2837:
2831:
2824:
2822:
2818:
2817:
2815:
2814:
2808:
2803:
2798:
2791:
2789:
2785:
2784:
2782:
2781:
2776:
2771:
2770:
2769:
2759:
2754:
2752:Emery-Dreifuss
2749:
2744:
2743:
2742:
2737:
2727:
2721:
2719:
2715:
2714:
2709:
2707:
2706:
2699:
2692:
2684:
2675:
2674:
2671:
2670:
2659:
2647:
2646:
2644:
2640:
2639:
2636:
2635:
2624:
2605:
2590:
2574:
2569:
2568:
2566:
2565:Classification
2540:
2533:
2532:
2531:
2529:
2528:External links
2526:
2525:
2524:
2496:(4): 277â288.
2481:
2455:Acta Myologica
2444:
2441:
2438:
2437:
2414:
2395:
2370:
2342:
2321:(3): 129â134.
2301:
2294:
2276:
2249:(9): 816â827.
2233:
2226:
2208:
2159:
2132:Acta Myologica
2118:
2089:
2056:
2047:|website=
1998:
1946:
1939:
1921:
1907:. 2017-03-09.
1892:
1838:
1809:
1795:. 2017-03-07.
1780:
1751:
1736:
1710:
1696:. 2016-04-15.
1681:
1649:
1632:
1601:
1546:
1516:
1499:
1477:Choices, NHS.
1469:
1418:
1389:(4): 347â361.
1369:
1338:
1321:
1296:
1262:
1237:
1211:
1146:
1088:
1087:
1085:
1082:
1080:
1079:
1074:
1069:
1063:
1058:
1053:
1047:
1045:
1042:
1004:
1001:
991:
988:
982:
979:
922:
919:
916:
915:
913:
910:
907:
898:
891:
886:
878:
877:
872:Presents with
870:
867:
864:
859:
846:
837:
829:
828:
825:
822:
819:
810:
807:
804:
796:
795:
791:
788:
785:
780:
773:
768:
760:
759:
755:
752:
749:
736:
733:
730:
722:
721:
711:
708:
705:
696:
689:
684:
676:
675:
671:
668:
665:
660:
653:
648:
640:
639:
617:
614:
611:
602:
599:
596:
588:
587:
580:
577:
574:
569:
562:
557:
549:
548:
545:
542:
539:
536:
533:
528:
527:Disorder name
521:
520:Classification
518:
493:
490:
462:
459:
457:
456:
454:Cardiomyopathy
451:
445:
442:
436:
431:
428:
423:
417:
411:
408:
404:
387:
384:
188:
187:
184:
178:
177:
156:
152:
151:
146:
140:
139:
121:
117:
116:
94:
90:
89:
86:
82:
81:
74:
68:
67:
62:
56:
55:
47:
46:
38:
37:
29:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
3535:
3524:
3521:
3519:
3516:
3515:
3513:
3494:
3491:
3489:
3486:
3485:
3483:
3479:
3471:
3468:
3466:
3463:
3461:
3458:
3457:
3455:
3450:
3449:
3448:
3445:
3443:
3440:
3438:
3435:
3431:
3428:
3427:
3425:
3422:
3418:
3415:
3413:
3410:
3409:
3407:
3404:
3403:
3401:
3399:
3395:
3388:
3385:
3383:
3380:
3378:
3375:
3373:
3370:
3368:
3364:
3361:
3359:
3356:
3354:
3351:
3349:
3345:
3344:
3342:
3340:
3336:
3330:
3326:
3325:Brody disease
3323:
3321:
3316:
3315:
3312:
3302:
3299:
3298:
3296:
3292:
3286:
3283:
3279:
3276:
3275:
3274:
3271:
3270:
3268:
3266:
3262:
3257:
3254:
3250:
3247:
3246:
3245:
3244:Neuromyotonia
3242:
3238:
3235:
3233:
3230:
3229:
3228:
3225:
3223:
3221:
3217:
3214:
3210:(ion channel)
3209:
3208:
3207:
3206:Channelopathy
3203:
3195:
3192:
3190:
3187:
3186:
3185:
3184:
3180:
3176:
3173:
3172:
3171:
3170:
3166:
3162:
3159:
3158:
3157:
3156:
3152:
3148:
3145:
3144:
3143:
3142:
3138:
3137:
3135:
3131:
3121:
3118:
3114:
3111:
3109:
3106:
3105:
3104:
3103:
3099:
3098:
3096:
3094:
3090:
3082:
3079:
3077:
3074:
3072:
3069:
3068:
3067:
3064:
3062:
3059:
3057:
3056:Calpainopathy
3054:
3053:
3051:
3049:
3045:
3039:
3038:Distal (most)
3036:
3034:
3031:
3029:
3026:
3024:
3021:
3019:
3016:
3015:
3013:
3011:
3007:
3004:
3001:
2996:
2992:
2989:
2987:
2983:
2977:
2974:
2970:
2969:Neuromyotonia
2967:
2965:
2962:
2960:
2957:
2956:
2955:
2954:
2950:
2949:
2947:
2945:
2941:
2937:
2933:
2929:
2925:
2917:
2912:
2910:
2905:
2903:
2898:
2897:
2894:
2882:
2874:
2873:
2870:
2864:
2861:
2860:
2858:
2854:
2847:
2844:
2841:
2838:
2835:
2832:
2829:
2826:
2825:
2823:
2819:
2812:
2809:
2807:
2804:
2802:
2799:
2796:
2793:
2792:
2790:
2786:
2780:
2777:
2775:
2772:
2768:
2767:Calpainopathy
2765:
2764:
2763:
2760:
2758:
2755:
2753:
2750:
2748:
2745:
2741:
2738:
2736:
2733:
2732:
2731:
2728:
2726:
2723:
2722:
2720:
2716:
2712:
2705:
2700:
2698:
2693:
2691:
2686:
2685:
2682:
2669:
2665:
2664:
2660:
2658:
2654:
2653:
2649:
2648:
2645:
2641:
2634:
2630:
2629:
2625:
2623:
2619:
2615:
2614:
2610:
2606:
2604:
2600:
2599:
2595:
2591:
2589:
2585:
2584:
2580:
2576:
2575:
2572:
2567:
2563:
2555:
2554:
2553:
2547:
2543:
2527:
2521:
2517:
2512:
2507:
2503:
2499:
2495:
2491:
2487:
2482:
2478:
2474:
2469:
2464:
2460:
2456:
2452:
2447:
2446:
2442:
2434:
2430:
2426:
2423:
2418:
2415:
2411:
2407:
2404:
2399:
2396:
2385:
2381:
2374:
2371:
2358:
2357:
2352:
2346:
2343:
2338:
2334:
2329:
2324:
2320:
2316:
2312:
2305:
2302:
2297:
2291:
2287:
2280:
2277:
2272:
2268:
2264:
2260:
2256:
2252:
2248:
2244:
2237:
2234:
2229:
2223:
2219:
2212:
2209:
2204:
2200:
2195:
2190:
2186:
2182:
2178:
2174:
2170:
2163:
2160:
2155:
2151:
2146:
2141:
2137:
2133:
2129:
2122:
2119:
2107:
2103:
2099:
2093:
2090:
2077:
2074:. NIH. 2015.
2073:
2069:
2063:
2061:
2057:
2052:
2040:
2025:
2021:
2017:
2013:
2009:
2002:
1999:
1994:
1990:
1986:
1982:
1977:
1972:
1969:(4): 358â67.
1968:
1964:
1957:
1950:
1947:
1942:
1936:
1932:
1925:
1922:
1910:
1906:
1902:
1896:
1893:
1888:
1884:
1879:
1874:
1870:
1866:
1862:
1858:
1854:
1847:
1845:
1843:
1839:
1827:
1823:
1819:
1813:
1810:
1798:
1794:
1790:
1784:
1781:
1770:on 2017-03-10
1769:
1765:
1761:
1755:
1752:
1747:
1743:
1739:
1733:
1729:
1725:
1721:
1714:
1711:
1699:
1695:
1691:
1685:
1682:
1670:
1666:
1662:
1656:
1654:
1650:
1647:
1643:
1642:
1636:
1633:
1630:
1626:
1622:
1618:
1615:
1610:
1608:
1606:
1602:
1597:
1593:
1589:
1585:
1581:
1577:
1573:
1569:
1565:
1561:
1557:
1550:
1547:
1534:
1531:. NIH. 2015.
1530:
1526:
1520:
1517:
1512:
1511:
1503:
1500:
1488:
1484:
1480:
1473:
1470:
1465:
1461:
1456:
1451:
1446:
1441:
1437:
1433:
1429:
1422:
1419:
1414:
1410:
1405:
1400:
1396:
1392:
1388:
1384:
1380:
1373:
1370:
1365:
1361:
1357:
1353:
1345:
1343:
1339:
1336:
1332:
1331:
1325:
1322:
1317:
1313:
1308:
1303:
1299:
1297:9780470650714
1293:
1289:
1285:
1281:
1277:
1273:
1266:
1263:
1258:
1254:
1249:
1244:
1240:
1234:
1230:
1226:
1222:
1215:
1212:
1199:
1195:
1191:
1185:
1183:
1181:
1179:
1177:
1175:
1173:
1171:
1169:
1167:
1165:
1163:
1161:
1159:
1157:
1155:
1153:
1151:
1147:
1134:
1130:
1126:
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3424:Hyperthyroid
3285:Hyperkalemic
3181:
3167:
3161:X-linked MTM
3153:
3139:
3100:
2994:
2951:
2922:Diseases of
2846:Grøn Koncert
2710:
2668:orthoped/418
2661:
2650:
2626:
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2577:
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2549:
2548:profile for
2545:
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2417:
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2387:. Retrieved
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1821:
1812:
1801:. Retrieved
1792:
1783:
1772:. Retrieved
1768:the original
1763:
1754:
1719:
1713:
1702:. Retrieved
1694:Patient.info
1693:
1684:
1673:. Retrieved
1664:
1639:
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1528:
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1204:12 September
1202:. Retrieved
1198:the original
1193:
1139:12 September
1137:. Retrieved
1133:the original
1128:
1027:
1020:
1006:
993:
984:
975:
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932:
909:40â50 years
893:
881:
854:
848:
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799:
787:Adolescence
775:
763:
725:
714:
707:20â60 years
691:
679:
655:
643:
627:
620:
591:
564:
552:
547:Description
514:
500:, increased
495:
483:
464:
439:Gowers' sign
410:Poor balance
401:
396:contractures
379:
375:
372:Charles Bell
369:
366:
342:muscle cells
286:gene therapy
283:
240:
213:
196:
192:
191:
3406:Hypothyroid
3273:Hypokalemic
3155:PTP disease
2652:MedlinePlus
1905:Nlm.nih.gov
1625:MD CARE Act
1030:MD CARE Act
1009:Jerry Lewis
951:deflazacort
450:difficulty
448:Respiratory
328:to control
310:Deflazacort
275:blood tests
3512:Categories
3317:(ion pump)
3278:Thyrotoxic
3194:Zaspopathy
3102:dystrophin
3066:Congenital
2953:autoimmune
2840:DĂŠcrypthon
2725:Congenital
2461:(1): 4â8.
2389:2017-03-14
2384:The Nation
2112:2016-04-10
2030:2017-03-14
1915:2017-03-14
1832:2017-03-14
1803:2017-03-14
1774:2017-03-14
1704:2017-03-14
1675:2017-03-14
1560:The Lancet
1493:2016-04-10
1483:www.nhs.uk
1438:(5): 488.
1084:References
947:prednisone
921:Management
866:Adulthood
667:Childhood
576:Childhood
338:Givinostat
314:Vamorolone
302:Eteplirsen
230:, whereas
52:dystrophin
3426:myopathy
3408:myopathy
2848:(Denmark)
2813:(Denmark)
2663:eMedicine
2049:ignored (
2039:cite book
1646:eMedicine
1580:0140-6736
1358:: 11â23.
1335:eMedicine
1019:telecast
1017:Labor Day
981:Prognosis
963:pacemaker
903:, rarely
809:Multiple
806:Multiple
735:Multiple
732:Multiple
613:At birth
601:Multiple
598:Multiple
492:Diagnosis
467:inherited
414:Scoliosis
322:Diltiazem
243:mutations
182:Prognosis
155:Treatment
60:Specialty
3220:Myotonia
3113:Duchenne
3108:Becker's
3071:Fukuyama
3033:Myotonic
2986:Myopathy
2881:Category
2842:(France)
2774:Myotonic
2740:Duchenne
2735:Becker's
2520:22172424
2477:22655510
2425:Archived
2406:Archived
2337:21912442
2263:23884013
2203:21245364
2154:22655512
2106:Archived
2082:10 April
2076:Archived
2024:Archived
2020:20301344
1985:20176601
1909:Archived
1887:27922500
1826:Archived
1797:Archived
1764:Omim.org
1746:21496636
1698:Archived
1669:Archived
1617:Archived
1596:31578361
1588:11879882
1539:10 April
1533:Archived
1487:Archived
1464:34066119
1413:29395990
1316:26140716
1257:26140716
1044:See also
1011:and the
967:myotonia
955:Orthoses
874:myotonia
504:(CpK3),
471:X-linked
330:seizures
298:Ataluren
290:Elevidys
85:Duration
72:Symptoms
3481:General
3346:Muscle
3076:Ullrich
2633:D009136
2542:Scholia
2511:3332154
2468:3440798
2435:website
2363:7 April
2328:3157948
2271:9990910
2194:3057042
2145:3440807
2072:NIH.gov
1993:2453622
1878:5898965
1529:NIH.gov
1455:8151418
1404:5889091
1307:4767260
1248:4767260
990:History
484:de novo
354:surgery
292:), and
257:during
171:surgery
124:Genetic
88:Chronic
3329:ATP2A1
2930:, and
2924:muscle
2747:Distal
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949:, and
895:PABPN1
889:164300
844:602668
840:160900
771:158900
687:254130
651:310200
560:300376
508:, and
461:Causes
380:troph-
350:braces
226:, and
209:organs
167:braces
120:Causes
3387:MNGIE
3372:MERRF
3367:MELAS
3294:Other
2718:Types
2622:359.1
2618:359.0
2603:G71.0
2546:topic
2267:S2CID
1989:S2CID
1959:(PDF)
1592:S2CID
1194:NINDS
1129:NINDS
535:Gene
269:, or
247:genes
134:, or
93:Types
3000:DAPC
2830:(US)
2797:(US)
2628:MeSH
2613:9-CM
2588:8C70
2516:PMID
2473:PMID
2365:2020
2333:PMID
2290:ISBN
2259:PMID
2222:ISBN
2199:PMID
2150:PMID
2084:2016
2051:help
2016:PMID
1981:PMID
1935:ISBN
1883:PMID
1742:PMID
1732:ISBN
1584:PMID
1576:ISSN
1541:2016
1460:PMID
1409:PMID
1312:PMID
1292:ISBN
1253:PMID
1233:ISBN
1206:2016
1141:2016
856:CNBP
850:DMPK
821:Any
777:DUX4
693:DYSF
633:and
531:OMIM
277:and
234:and
3382:PEO
3377:KSS
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2594:ICD
2579:ICD
2506:PMC
2498:doi
2463:PMC
2433:NIH
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2181:doi
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1225:doi
657:DMD
566:DMD
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