69:
40:
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forms of centronuclear myopathy, while other research suggests that the growth arrest mechanism may be responsible for all forms of MTM and CNM. Regardless of whether the myopathy is caused by arrest at the "myotubular" stage, for historical reasons the name myotubular myopathy persists and is widely
395:
The overall incidence of myotubular myopathy is 1 in 50,000 male live births. The incidence of other centronuclear myopathies is extremely rare, with there only being nineteen families identified with CNM throughout the world. The symptoms currently range from the majority who only need to walk with
143:
complications (presumably due to weakness of the muscles responsible for respiration). Involvement of the facial muscles may cause ophthalmoplegia or ptosis. A mutation in the RYR1 gene causing CNM may also cause susceptibility to malignant hyperthermia, a potentially life-threatening reaction to
148:
throughout their adult life, others may never crawl or walk and may require wheelchair use for mobility. There is substantial variability in the degree of functional impairment among the various centronuclear myopathies. Although this condition only affects the voluntary muscles, several children
155:
myotubular myopathy was traditionally a fatal condition of infancy, with life expectancy of usually less than two years. There appears to be substantial variability in the clinical severity for different genetic abnormalities at that same MTM1 gene. Further, published cases show significant
396:
aids, from a stick to a walking frame, to total dependence on physical mobility aids such as wheelchairs and stand aids, but this latter variety is so rare that only two cases are known to the CNM "community". Approximately 80% of males with a diagnosis of myotubular myopathy by
419:
More than three decades later, it is not fully understood whether this theory regarding halted (or delayed) embryonic muscle development is correct. Some research suggests that this theory may be acceptable for infant-onset myotubular myopathy (mutations at the MTM1 gene on the
332:
A "dominant" abnormality will exert its abnormal influence (e.g., causing a disease or medical condition) regardless of whether the other copy of the gene is normal or not. Within centronuclear myopathies, researchers have identified an autosomal dominant form at a gene called
657:
Dirk
Fischer; Muriel Herasse; Marc Bitoun; Héctor M. Barragán-Campos; Jacques Chiras; Pascal Laforêt; Michel Fardeau; Bruno Eymard; Pascale Guicheney; Norma B. Romero (2006). "Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy".
1100:
1085:
188:
form of centronuclear myopathy. This condition is now known as dynamin 2 centronuclear myopathy (abbreviated DNM2-CNM). Research has indicated that patients with DNM2-CNM have a slowly progressive muscular weakness usually beginning in
171:
Centronuclear myopathies typically have a milder presentation and a better prognosis. Autosomal dominant CNM tends to have a less severe phenotype than the autosomal recessive version. Recently, researchers discovered
437:
Although all forms of centronuclear myopathy are considered rare, the most commonly known form of CNM is
Myotubular Myopathy (MTM). (The terms "centronuclear myopathy" and "myotubular myopathy" are sometimes equated.)
1239:
47:
Muscle biopsy from the quadriceps taken at 3 months of age from a girl with X-linked centronuclear ("myotubular") myopathy due to a mutation in the myotubularin (MTM1) gene and extremely skewed X-inactivation
883:
ZANOTELI, EDMAR; OLIVEIRA, ACARY SOUZA BULLE; KIYOMOTO, BEATRIZ HITOMI; SCHMIDT, BENY; GABBAI, ALBERTO ALAIN (1998). "Centronuclear myopathy: histopathological aspects in ten patients with chilfhood onset".
217:
involved in cellular transport, trafficking and signalling. Approximately 80% of males with myotubular myopathy diagnosed by muscle biopsy have mutations in MTM1, and about 7% of these mutations are
1041:
1712:
1232:
2461:
840:
Bergen, Barry J.; Carry, Michael P.; Wilson, W. Bruce; Barden, Michael T.; Ringel, Steven P. (1980). "Centronuclear myopathy: Extraocular- and limb-muscle findings in an adult".
228:
sex-linked (e.g., not located on the X chromosome) are considered autosomal. Autosomal abnormalities can either be dominant or recessive, and are often referred to as AD for "
1683:
1225:
2088:
119:
myotubular myopathy form typically presents at birth, and is thus considered a congenital myopathy. However, some centronuclear myopathies may present later in life.
2144:
2008:
607:
Bitoun M, Maugenre S, Jeannet P, Lacène E, Ferrer X, Laforêt P, Martin J, Laporte J, Lochmüller H, Beggs A, Fardeau M, Eymard B, Romero N, Guicheney P (2005).
2044:
1855:
1707:
966:
Manta P, Mamali I, Zambelis T, Aquaviva T, Kararizou E, Kalfakis N (2006). "Immunocytochemical study of cytoskeletal proteins in centronuclear myopathies".
131:, the clinical manifestations of MTM/CNM are most notably muscle weakness and associated disabilities. Congenital forms often present with neonatal low
1737:
534:
Laporte J, Biancalana V, Tanner S, Kress W, Schneider V, Wallgren-Pettersson C, Herger F, Buj-Bello A, Blondeau F, Liechti-Gallati S, Mandel J (2000).
1904:
2351:
2199:
416:, showed that the nuclei of the muscle cells were located in the center of the muscle cells, instead of their normal location of the periphery.
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1396:
1353:
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1289:
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2013:
1989:
1401:
1325:
2189:
1924:
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Currently, there is no curative treatment for CNM in any form, and the multidisciplinary approach to management is primarily supportive.
1115:
1979:
1494:
1348:
552:
535:
2265:
2223:
2049:
2194:
2129:
1848:
52:, transverse section). Note marked variability in fibre size, moderate increase in connective tissue and numerous central nuclei.
2356:
519:
Al-Ruwaishid A, Vajsar J, Tein I, Benson L, Jay (2013). "Centronuclear myopathy and cardiomyopathy requiring heart transplant".
1975:
1610:
379:. All muscles, including extra-ocular muscles, have the distinctive central nucleus, which can affect up to 90% of the fibers.
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1878:
1678:
1598:
1386:
1343:
1301:
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1433:
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1894:
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1603:
1391:
1899:
729:
1486:
1480:
1217:
273:
1406:
608:
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2361:
2255:
1909:
1841:
1438:
342:
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The X-linked form of MTM/CNM is the most commonly diagnosed type. Almost all cases of X-linked MTM occurs in males.
2431:
2018:
2134:
1702:
2391:
2251:
1914:
1363:
2426:
2093:
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are combined with suggestive clinical symptoms; muscle MR imaging may supplement clinical assessment and inform
1673:
1132:
675:"X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28"
136:
2396:
2320:
2110:
2039:
1785:
919:
Spiro A, Shy G, Gonatas N (1966). "Myotubular myopathy. Persistence of fetal muscle in an adolescent boy".
2411:
2218:
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2062:
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1253:
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differences in clinical severity among relatives with the same genetic abnormality at the MTM1 gene. Most
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2075:
1813:
1257:
1205:
39:
2031:
1957:
1929:
1626:
2228:
1939:
1818:
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1767:
1755:
1373:
1104:
233:
68:
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2101:
1999:
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1590:
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1418:
1358:
1335:
1320:
639:
565:
229:
185:
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1984:
1967:
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1024:
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218:
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A "recessive" abnormality will only cause disease if both copies of the gene are abnormal.
2341:
2288:
2164:
2159:
2080:
1886:
1574:
1557:
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In 1966, Dr. Spiro (a New York City neurologist) published a medical report of a boy with
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1002:
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2209:
2174:
2106:
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GeneReviews/NCBI/NIH/UW entry on X-Linked
Myotubular Myopathy or Centronuclear Myopathy
774:
747:
699:
674:
673:
Lehesjoki A, Sankila E, Miao J, Somer M, Salonen R, Rapola J, de la
Chapelle A (1990).
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461:
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as centrally located nuclei encircled by a perinuclear halo filled with aggregates of
2455:
2416:
2179:
2139:
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2054:
1952:
1947:
1919:
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1531:
1381:
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112:
897:
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569:
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have had cardiac arrest, possibly due to the additional stress placed on the heart.
2026:
1749:
1508:
1183:
956:
Online
Mendelian Inheritance in Man, OMIM. Johns Hopkins University, Baltimore, MD.
421:
210:
206:
49:
1137:
979:
1864:
1731:
1189:
376:
239:
The possible combinations of inheritance of myotubular myopathy are as follows:
214:
190:
132:
97:
93:
1148:
1519:
1427:
1278:
1194:
1094:
1062:
726:
460:
Jungbluth, Heinz; Wallgren-Pettersson, Carina; Laporte, Jocelyn (2008-09-25).
300:
145:
128:
89:
86:
905:
861:
818:
487:
1178:
1154:
425:
173:
161:
140:
104:
62:
1028:
987:
783:
764:
635:
561:
505:
478:
940:
869:
853:
826:
708:
356:
Centronuclear myopathy is diagnosed when typical histological findings on
168:
are associated with milder forms and prolonged survival (up to 54 years).
1545:
1311:
1200:
690:
553:
10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R
409:
372:
202:
152:
116:
400:
will have a mutation in MTM1 identifiable by genetic sequence analysis.
135:, severe weakness, delayed developmental milestones (particularly gross
334:
205:
form of myotubular myopathy (XLMTM) was first localized in 1990 to the
177:
1077:
144:
anesthesia. While some patients with centronuclear myopathies remain
1833:
1654:
1249:
1089:
326:
583:
627:
2312:
1001:
Pierson C, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs A (2005).
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296:
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287:
269:
264:
248:
2378:
1876:
1837:
1221:
609:"Mutations in dynamin 2 cause dominant centronuclear myopathy"
224:
Centronuclear myopathies where the genetic abnormality is
584:"OMIM Entry- # 255200 - MYOPATHY, CENTRONUCLEAR, 2; CNM2"
193:
or early adulthood, with an age range of 12 to 74 years.
797:
SPIRO, ALFRED J. (1966-01-01). "Myotubular
Myopathy".
746:
Jungbluth H, Wallgren-Pettersson C, Laporte J (2008).
341:, and this particular condition is now referred to as
1067:
2329:
2307:
2279:
2242:
2208:
2119:
1998:
1966:
1938:
1885:
1806:
1722:
1663:
1639:
1619:
1589:
1544:
1530:
1458:
1417:
1372:
1334:
1319:
1310:
1264:
1169:
1071:
100:instead of their normal location at the periphery.
56:
29:
24:
1003:"X-linked myotubular and centronuclear myopathies"
139:such as head control, crawling, and walking) and
536:"MTM1 mutations in X-linked myotubular myopathy"
16:Muscular disease caused by misplaced cell nuclei
2055:Danon disease/glycogen storage disease Type IIb
805:(1). American Medical Association (AMA): 1–14.
2462:Myoneural junction and neuromuscular diseases
2160:Color blindness (red and green, but not blue)
2145:Alpha-thalassemia mental retardation syndrome
1849:
1233:
8:
2045:Glucose-6-phosphate dehydrogenase deficiency
201:The genetic abnormality associated with the
736:The University of Chicago Genetic Services.
2375:
1873:
1856:
1842:
1834:
1541:
1331:
1316:
1240:
1226:
1218:
1068:
455:
453:
451:
67:
38:
21:
1905:X-linked severe combined immunodeficiency
1018:
773:
763:
722:
720:
718:
698:
551:
495:
477:
241:
184:, at site 19p13.2), responsible for the
160:of MTM1 cause a severe and early lethal
96:are abnormally located in the center of
2299:X-linked nephrogenic diabetes insipidus
2224:Hypohidrotic ectodermal dysplasia (EDA)
954:Myotubular Myopathy, Autosomal Dominant
447:
2234:X-linked endothelial corneal dystrophy
115:. Among centronuclear myopathies, the
2190:Charcot–Marie–Tooth disease (CMTX2-3)
2014:Ornithine transcarbamylase deficiency
1990:X-linked adrenal hypoplasia congenita
748:"Centronuclear (myotubular) myopathy"
727:MTM1 analysis for Myotubular Myopathy
462:"Centronuclear (myotubular) myopathy"
111:-requiring breathing assistance, and
7:
1925:X-linked lymphoproliferative disease
1895:Chronic granulomatous disease (CYBB)
933:10.1001/archneur.1966.00470070005001
811:10.1001/archneur.1966.00470070005001
424:) but may not be acceptable for the
367:Centronuclear myopathy manifests on
2271:Emery–Dreifuss muscular dystrophy 1
1020:10.1097/01.jnen.0000171653.17213.2e
1980:Spinal and bulbar muscular atrophy
1501:BIN1-linked centronuclear myopathy
213:protein, a highly conserved lipid
14:
2050:Pyruvate dehydrogenase deficiency
1782:Testosterone deficiency myopathy
1290:Lambert–Eaton myasthenic syndrome
892:(1). FapUNIFESP (SciELO): 01–08.
466:Orphanet Journal of Rare Diseases
209:at site Xq28. MTM1 codes for the
2130:X-linked intellectual disability
1738:Kocher–Debre–Semelaigne syndrome
1387:Limb-girdle muscular dystrophy 2
1344:Limb-girdle muscular dystrophy 1
343:dynamin 2 centronuclear myopathy
1976:Androgen insensitivity syndrome
1195:X-Linked Centronuclear Myopathy
898:10.1590/s0004-282x1998000100001
364:in cases with equivocal signs.
103:Symptoms of CNM include severe
2352:Simpson–Golabi–Behmel syndrome
1679:Fatty-acid metabolism disorder
1302:Congenital myasthenic syndrome
1:
2321:AMELX Amelogenesis imperfecta
2261:Centronuclear myopathy (MTM1)
1958:X-linked sideroblastic anemia
1791:Hypogonadotropic hypogonadism
886:Arquivos de Neuro-Psiquiatria
375:and mitochondria but without
2347:Smith–Fineman–Myers syndrome
2195:Pelizaeus–Merzbacher disease
2089:Purine–pyrimidine metabolism
1047:Dorland's Medical Dictionary
980:10.1016/j.acthis.2006.05.004
274:X-linked myotubular myopathy
2437:Craniofrontonasal dysplasia
2362:Nasodigitoacoustic syndrome
1910:X-linked agammaglobulinemia
2478:
2432:Orofaciodigital syndrome 1
2266:Conradi–Hünermann syndrome
2019:Oculocerebrorenal syndrome
732:September 4, 2006, at the
2392:X-linked hypophosphatemia
2387:
2374:
2252:Becker muscular dystrophy
1915:Hyper-IgM syndrome type 1
1872:
1768:Hyperparathyroid myopathy
46:
37:
2357:Mohr–Tranebjærg syndrome
1900:Wiskott–Aldrich syndrome
1763:Hypoparathyroid myopathy
1674:Glycogen storage disease
1042:"centronuclear myopathy"
1007:J Neuropathol Exp Neurol
79:Centronuclear myopathies
2397:Focal dermal hypoplasia
2111:Occipital horn syndrome
2040:Carbohydrate metabolism
1786:Late-onset hypogonadism
1777:Corticosteroid myopathy
1495:adaptor protein disease
2412:Incontinentia pigmenti
2219:Dyskeratosis congenita
2063:Lipid storage disorder
1985:KAL1 Kallmann syndrome
1689:Mitochondrial myopathy
1582:Paramyotonia congenita
1254:neuromuscular junction
765:10.1186/1750-1172-3-26
479:10.1186/1750-1172-3-26
25:Centronuclear myopathy
2135:Coffin–Lowry syndrome
2076:Mucopolysaccharidosis
1814:Inflammatory myopathy
1258:neuromuscular disease
854:10.1002/mus.880030210
848:(2). Wiley: 165–171.
799:Archives of Neurology
2427:Lujan–Fryns syndrome
2094:Lesch–Nyhan syndrome
2032:Adrenoleukodystrophy
1930:Properdin deficiency
1627:Central core disease
1509:cytoskeleton disease
691:10.1136/jmg.27.5.288
284:Autosomal recessive
158:truncating mutations
2229:X-linked ichthyosis
1819:Congenital myopathy
1796:Androgen deficiency
1756:Thyrotoxic myopathy
1354:Facioscapulohumeral
752:Orphanet J Rare Dis
310:Autosomal dominant
261:X-linked recessive
234:autosomal recessive
2402:Fragile X syndrome
2212:and related tissue
1879:X-linked recessive
1665:Metabolic myopathy
1591:Periodic paralysis
1553:Myotonia congenita
1321:Muscular dystrophy
1170:External resources
842:Muscle & Nerve
230:autosomal dominant
186:autosomal dominant
166:missense mutations
2449:
2448:
2445:
2444:
2381:X-linked dominant
2370:
2369:
2330:No primary system
1831:
1830:
1827:
1826:
1743:Hoffmann syndrome
1635:
1634:
1515:Nemaline myopathy
1454:
1453:
1285:Myasthenia gravis
1215:
1214:
622:(11): 1207–1209.
349:
348:
219:genetic deletions
85:) are a group of
76:
75:
19:Medical condition
2469:
2407:Aicardi syndrome
2376:
1874:
1858:
1851:
1844:
1835:
1773:Hypercortisolism
1684:AMPD1 deficiency
1640:ATPase disorder
1542:
1473:Bethlem myopathy
1467:collagen disease
1459:Other structural
1332:
1317:
1270:junction disease
1242:
1235:
1228:
1219:
1069:
1050:
1039:
1033:
1032:
1022:
998:
992:
991:
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137:motor milestones
72:
71:
42:
22:
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2471:
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2468:
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2466:
2452:
2451:
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2383:
2366:
2342:McLeod syndrome
2325:
2303:
2289:Alport syndrome
2275:
2238:
2204:
2165:Ocular albinism
2115:
2081:Hunter syndrome
1994:
1962:
1934:
1881:
1868:
1862:
1832:
1823:
1802:
1718:
1659:
1631:
1615:
1585:
1575:Isaacs syndrome
1558:Thomsen disease
1526:
1450:
1413:
1368:
1349:Oculopharyngeal
1323:
1306:
1268:
1260:
1246:
1216:
1211:
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1165:
1164:
1080:
1059:
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734:Wayback Machine
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362:genetic testing
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2422:CHILD syndrome
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2372:
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2337:Barth syndrome
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2327:
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2317:
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2301:
2296:
2294:Dent's disease
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2240:
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2197:
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2183:
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2177:
2175:Norrie disease
2172:
2162:
2157:Eye disorders:
2153:
2152:
2147:
2142:
2137:
2125:
2123:
2121:Nervous system
2117:
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2114:
2113:
2107:Menkes disease
2097:
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2016:
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1770:
1765:
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1747:
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1728:
1726:
1724:Endocrinopathy
1720:
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1710:
1705:
1700:
1695:
1686:
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1632:
1630:
1629:
1623:
1621:
1617:
1616:
1614:
1613:
1608:
1607:
1606:
1595:
1593:
1587:
1586:
1584:
1579:
1578:
1577:
1567:
1566:
1565:
1563:Becker disease
1560:
1550:
1548:
1539:
1538:
1537:
1528:
1527:
1525:
1524:
1523:
1522:
1517:
1505:
1504:
1503:
1491:
1490:
1489:
1477:
1476:
1475:
1462:
1460:
1456:
1455:
1452:
1451:
1449:
1448:
1446:Emery–Dreifuss
1443:
1442:
1441:
1436:
1423:
1421:
1415:
1414:
1412:
1411:
1410:
1409:
1407:Walker–Warburg
1404:
1399:
1389:
1384:
1378:
1376:
1370:
1369:
1367:
1366:
1361:
1356:
1351:
1346:
1340:
1338:
1329:
1314:
1308:
1307:
1305:
1304:
1299:
1298:
1297:
1292:
1287:
1274:
1272:
1266:Neuromuscular-
1262:
1261:
1247:
1245:
1244:
1237:
1230:
1222:
1213:
1212:
1209:
1208:
1197:
1186:
1174:
1173:
1171:
1167:
1166:
1163:
1162:
1151:
1140:
1129:
1112:
1097:
1081:
1076:
1075:
1073:
1072:Classification
1066:
1065:
1058:
1057:External links
1055:
1052:
1051:
1034:
993:
968:Acta Histochem
958:
946:
911:
875:
832:
789:
738:
714:
665:
649:
628:10.1038/ng1657
599:
575:
546:(5): 393–409.
526:
511:
446:
445:
443:
440:
434:
431:
405:
402:
392:
389:
384:
381:
353:
350:
347:
346:
330:
316:
311:
307:
306:
303:
290:
285:
281:
280:
277:
267:
262:
258:
257:
254:
251:
246:
198:
195:
127:As with other
124:
121:
74:
73:
60:
54:
53:
44:
43:
35:
34:
31:
27:
26:
18:
15:
13:
10:
9:
6:
4:
3:
2:
2474:
2463:
2460:
2459:
2457:
2438:
2435:
2433:
2430:
2428:
2425:
2423:
2420:
2418:
2417:Rett syndrome
2415:
2413:
2410:
2408:
2405:
2403:
2400:
2398:
2395:
2393:
2390:
2389:
2386:
2382:
2377:
2373:
2363:
2360:
2358:
2355:
2353:
2350:
2348:
2345:
2343:
2340:
2338:
2335:
2334:
2332:
2328:
2322:
2319:
2318:
2316:
2314:
2310:
2306:
2300:
2297:
2295:
2292:
2290:
2287:
2286:
2284:
2282:
2278:
2272:
2269:
2267:
2264:
2262:
2259:
2257:
2253:
2250:
2249:
2247:
2245:
2244:Neuromuscular
2241:
2235:
2232:
2230:
2227:
2225:
2222:
2220:
2217:
2216:
2214:
2211:
2207:
2201:
2198:
2196:
2193:
2191:
2188:
2185:
2184:
2181:
2180:Choroideremia
2178:
2176:
2173:
2170:
2166:
2163:
2161:
2158:
2155:
2154:
2151:
2148:
2146:
2143:
2141:
2140:MASA syndrome
2138:
2136:
2133:
2131:
2127:
2126:
2124:
2122:
2118:
2112:
2108:
2105:
2103:
2099:
2098:
2095:
2092:
2090:
2086:
2085:
2082:
2079:
2077:
2073:
2072:
2069:
2068:Fabry disease
2065:
2064:
2060:
2059:
2056:
2053:
2051:
2048:
2046:
2043:
2041:
2037:
2036:
2033:
2030:
2028:
2024:
2023:
2020:
2017:
2015:
2012:
2010:
2006:
2005:
2003:
2001:
1997:
1991:
1988:
1986:
1983:
1981:
1977:
1974:
1973:
1971:
1969:
1965:
1959:
1956:
1954:
1953:Haemophilia B
1951:
1949:
1948:Haemophilia A
1946:
1945:
1943:
1941:
1937:
1931:
1928:
1926:
1923:
1921:
1918:
1916:
1913:
1911:
1908:
1906:
1903:
1901:
1898:
1896:
1893:
1892:
1890:
1888:
1884:
1880:
1875:
1871:
1866:
1859:
1854:
1852:
1847:
1845:
1840:
1839:
1836:
1820:
1817:
1815:
1812:
1811:
1809:
1805:
1797:
1794:
1792:
1789:
1787:
1784:
1783:
1781:
1776:
1775:
1774:
1771:
1769:
1766:
1764:
1761:
1757:
1754:
1753:
1751:
1748:
1744:
1741:
1739:
1736:
1735:
1733:
1730:
1729:
1727:
1725:
1721:
1714:
1711:
1709:
1706:
1704:
1701:
1699:
1696:
1694:
1690:
1687:
1685:
1682:
1680:
1677:
1675:
1671:
1670:
1668:
1666:
1662:
1656:
1652:
1651:Brody disease
1649:
1647:
1642:
1641:
1638:
1628:
1625:
1624:
1622:
1618:
1612:
1609:
1605:
1602:
1601:
1600:
1597:
1596:
1594:
1592:
1588:
1583:
1580:
1576:
1573:
1572:
1571:
1570:Neuromyotonia
1568:
1564:
1561:
1559:
1556:
1555:
1554:
1551:
1549:
1547:
1543:
1540:
1536:(ion channel)
1535:
1534:
1533:
1532:Channelopathy
1529:
1521:
1518:
1516:
1513:
1512:
1511:
1510:
1506:
1502:
1499:
1498:
1497:
1496:
1492:
1488:
1485:
1484:
1483:
1482:
1478:
1474:
1471:
1470:
1469:
1468:
1464:
1463:
1461:
1457:
1447:
1444:
1440:
1437:
1435:
1432:
1431:
1430:
1429:
1425:
1424:
1422:
1420:
1416:
1408:
1405:
1403:
1400:
1398:
1395:
1394:
1393:
1390:
1388:
1385:
1383:
1382:Calpainopathy
1380:
1379:
1377:
1375:
1371:
1365:
1364:Distal (most)
1362:
1360:
1357:
1355:
1352:
1350:
1347:
1345:
1342:
1341:
1339:
1337:
1333:
1330:
1327:
1322:
1318:
1315:
1313:
1309:
1303:
1300:
1296:
1295:Neuromyotonia
1293:
1291:
1288:
1286:
1283:
1282:
1281:
1280:
1276:
1275:
1273:
1271:
1267:
1263:
1259:
1255:
1251:
1243:
1238:
1236:
1231:
1229:
1224:
1223:
1220:
1207:
1203:
1202:
1198:
1196:
1192:
1191:
1187:
1185:
1181:
1180:
1176:
1175:
1172:
1168:
1161:
1157:
1156:
1152:
1150:
1146:
1145:
1141:
1139:
1135:
1134:
1130:
1128:
1125:
1122:
1118:
1117:
1113:
1111:
1107:
1106:
1102:
1098:
1096:
1092:
1091:
1087:
1083:
1082:
1079:
1074:
1070:
1064:
1061:
1060:
1056:
1049:
1048:
1043:
1038:
1035:
1030:
1026:
1021:
1016:
1013:(7): 555–64.
1012:
1008:
1004:
997:
994:
989:
985:
981:
977:
973:
969:
962:
959:
955:
950:
947:
942:
938:
934:
930:
926:
922:
915:
912:
907:
903:
899:
895:
891:
887:
879:
876:
871:
867:
863:
859:
855:
851:
847:
843:
836:
833:
828:
824:
820:
816:
812:
808:
804:
800:
793:
790:
785:
781:
776:
771:
766:
761:
757:
753:
749:
742:
739:
735:
731:
728:
723:
721:
719:
715:
710:
706:
701:
696:
692:
688:
685:(5): 288–91.
684:
680:
676:
669:
666:
661:
653:
650:
645:
641:
637:
633:
629:
625:
621:
617:
610:
603:
600:
589:
585:
579:
576:
571:
567:
563:
559:
554:
549:
545:
541:
537:
530:
527:
522:
515:
512:
507:
503:
498:
493:
489:
485:
480:
475:
471:
467:
463:
456:
454:
452:
448:
441:
439:
432:
430:
427:
423:
417:
415:
414:muscle biopsy
412:, which upon
411:
403:
401:
399:
398:muscle biopsy
390:
388:
382:
380:
378:
374:
370:
369:muscle biopsy
365:
363:
359:
358:muscle biopsy
351:
344:
340:
339:chromosome 19
336:
331:
329:less common)
328:
324:
320:
317:
315:
312:
309:
308:
304:
302:
298:
294:
291:
289:
286:
283:
282:
278:
275:
271:
268:
266:
263:
260:
259:
255:
252:
250:
247:
244:
243:
240:
237:
235:
232:" or AR for "
231:
227:
222:
220:
216:
212:
208:
204:
196:
194:
192:
187:
183:
182:chromosome 19
179:
175:
169:
167:
164:, while some
163:
159:
154:
150:
147:
142:
138:
134:
130:
122:
120:
118:
114:
113:scaphocephaly
110:
106:
101:
99:
95:
91:
88:
84:
80:
70:
64:
61:
59:
55:
51:
50:H&E stain
45:
41:
36:
32:
28:
23:
2260:
2186:
2156:
2128:
2100:
2087:
2074:
2061:
2038:
2027:Dyslipidemia
2025:
2007:
1750:Hyperthyroid
1611:Hyperkalemic
1507:
1500:
1493:
1487:X-linked MTM
1479:
1465:
1426:
1277:
1248:Diseases of
1199:
1188:
1177:
1153:
1142:
1131:
1114:
1099:
1084:
1045:
1037:
1010:
1006:
996:
974:(4): 271–6.
971:
967:
961:
949:
924:
920:
914:
889:
885:
878:
845:
841:
835:
802:
798:
792:
755:
751:
741:
682:
678:
668:
659:
652:
619:
615:
602:
591:. Retrieved
588:www.omim.org
587:
578:
543:
539:
529:
520:
514:
469:
465:
436:
422:X chromosome
418:
407:
394:
391:Epidemiology
386:
377:myofilaments
366:
355:
345:(DNM2-CNM).
337:2 (DNM2) on
256:Description
245:Inheritance
238:
225:
223:
211:myotubularin
207:X chromosome
200:
176:at the gene
170:
151:
126:
123:Presentation
102:
98:muscle cells
82:
78:
77:
1940:Hematologic
1732:Hypothyroid
1599:Hypokalemic
1481:PTP disease
1190:GeneReviews
927:(1): 1–14.
921:Arch Neurol
679:J Med Genet
433:Terminology
215:phosphatase
191:adolescence
180:2 (DNM2 on
133:muscle tone
94:cell nuclei
30:Other names
2009:Amino acid
1643:(ion pump)
1604:Thyrotoxic
1520:Zaspopathy
1428:dystrophin
1392:Congenital
1279:autoimmune
1144:DiseasesDB
593:2022-01-09
442:References
429:accepted.
146:ambulatory
129:myopathies
90:myopathies
87:congenital
2000:Metabolic
1968:Endocrine
1867:disorders
1752:myopathy
1734:myopathy
1179:eMedicine
1155:SNOMED CT
906:0004-282X
862:0148-639X
819:0003-9942
616:Nat Genet
540:Hum Mutat
521:Brain Dev
488:1750-1172
472:(1): 26.
426:autosomal
383:Treatment
352:Diagnosis
174:mutations
162:phenotype
141:pulmonary
105:hypotonia
63:Neurology
58:Specialty
2456:Category
2281:Urologic
2256:Duchenne
1865:X-linked
1546:Myotonia
1439:Duchenne
1434:Becker's
1397:Fukuyama
1359:Myotonic
1312:Myopathy
1201:Orphanet
1184:neuro/76
1160:82077006
1029:16042307
988:16893562
784:18817572
730:Archived
644:37842933
636:16227997
570:27091541
562:10790201
506:18817572
410:myopathy
373:glycogen
253:Gene(s)
203:X-linked
153:X-linked
117:X-linked
2102:Mineral
1807:General
1672:Muscle
1402:Ullrich
1138:D020914
941:4954227
870:6445039
827:4954227
775:2572588
709:1972196
700:1017077
497:2572588
404:History
335:dynamin
197:Genetic
178:dynamin
109:hypoxia
2187:Other:
1887:Immune
1655:ATP2A1
1256:, and
1250:muscle
1127:255200
1124:310400
1121:160150
1027:
986:
939:
904:
868:
860:
825:
817:
782:
772:
758:: 26.
707:
697:
642:
634:
568:
560:
504:
494:
486:
327:MTMR14
314:160150
288:255200
265:310400
92:where
65:
2313:tooth
2200:SMAX2
1713:MNGIE
1698:MERRF
1693:MELAS
1620:Other
1149:31983
1110:359.0
1095:G71.2
660:Brain
640:S2CID
612:(PDF)
566:S2CID
2309:Bone
2210:Skin
2150:PHF8
1920:IPEX
1326:DAPC
1133:MeSH
1116:OMIM
1105:9-CM
1025:PMID
984:PMID
937:PMID
902:ISSN
866:PMID
858:ISSN
823:PMID
815:ISSN
780:PMID
705:PMID
632:PMID
558:PMID
502:PMID
484:ISSN
325:and
323:MYF6
319:DNM2
297:RYR1
293:BIN1
270:MTM1
249:OMIM
236:").
1708:PEO
1703:KSS
1206:595
1101:ICD
1086:ICD
1044:at
1015:doi
976:doi
972:108
929:doi
894:doi
850:doi
807:doi
770:PMC
760:doi
695:PMC
687:doi
624:doi
548:doi
492:PMC
474:doi
301:TTN
226:not
83:CNM
33:CNM
2458::
2066::
1419:XR
1374:AR
1336:AD
1252:,
1204::
1193::
1182::
1158::
1147::
1136::
1119::
1108::
1093::
1090:10
1023:.
1011:64
1009:.
1005:.
982:.
970:.
935:.
925:14
923:.
900:.
890:56
888:.
864:.
856:.
844:.
821:.
813:.
803:14
801:.
778:.
768:.
754:.
750:.
717:^
703:.
693:.
683:27
681:.
677:.
638:.
630:.
620:37
618:.
614:.
586:.
564:.
556:.
544:15
542:.
538:.
500:.
490:.
482:.
468:.
464:.
450:^
299:,
295:,
276:)
221:.
107:,
2311:/
2254:/
2171:)
2169:1
2167:(
2132::
2109:/
2104::
2091::
2078::
2042::
2029::
2011::
1978:/
1857:e
1850:t
1843:v
1715:)
1691:(
1657:)
1653:(
1328:)
1324:(
1241:e
1234:t
1227:v
1103:-
1088:-
1078:D
1031:.
1017::
990:.
978::
943:.
931::
908:.
896::
872:.
852::
846:3
829:.
809::
786:.
762::
756:3
711:.
689::
662:.
646:.
626::
596:.
572:.
550::
523:.
508:.
476::
470:3
321:(
272:(
81:(
48:(
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
