64:
40:
210:
201:. Most patients will not exhibit all of these symptoms, but more than one of these symptoms will be present in a patient who has been diagnosed with MERRF disease. Mitochondrial disorders, including MERRF, may present at any age. Due to the multiple symptoms presented by the individual, the severity of the syndrome is very difficult to evaluate.
469:
deaths. A family history may also indicate if any family members exhibit features of the multi-system disease, specifically if there has been maternal inheritance. This would show transmission of the disease only to females, or if there is a family member who experienced a multi-system involvement
1262:
Yorns, William R.; Valencia, Ignacio; Jayaraman, Aditya; Sheth, Sudip; Legido, Agustin; Goldenthal, Michael J. (2011-11-22). "Buccal Swab
Analysis of Mitochondrial Enzyme Deficiency and DNA Defects in a Child With Suspected Myoclonic Epilepsy and Ragged Red Fibers (MERRF)".
243:
in the genome can be identified that are associated with MERRF: m.A8344G, m.T8356C, m.G8361A, and m.G8363A. The point mutation m.A8344G is most commonly associated with MERRF, in a study published by Paul Jose
Lorenzoni from the Department of neurology at
453:(MRI).The classification for the severity of MERRF syndrome is difficult to distinguish since most individuals will exhibit multi-symptoms. This is often necessary for children with complex neurologic or multi-system involvement, as described below.
1368:
1353:
908:
Lorenzoni, Paulo José; Scola, Rosana
Herminia; Kay, Cláudia Suemi Kamoi; Silvado, Carlos Eduardo S.; Werneck, Lineu Cesar; Lorenzoni, Paulo José; Scola, Rosana Herminia; Kay, Cláudia Suemi Kamoi; Silvado, Carlos Eduardo S. (October 2014).
160:
An individual displaying MERRFs syndrome will manifest not only a single symptom, but patients regularly display more than one affected body part at a time. It has been observed that patients with MERRF syndrome will primarily display
437:
stated that 80% of the patients with MERRF disease exhibited this point mutation. The remaining mutations only account for 10% of cases, and the remaining 10% of the patients with MERRF did not have an identifiable mutation in the
633:. This study suggests that a buccal swab approach can be used to informatively examine mitochondrial dysfunction in children with seizures and may be applicable to screening mitochondrial disease with other clinical presentations.
2140:
386:. These may extend throughout the muscle fiber as the disease severity increases. The mitochondrial aggregates cause the contour of the muscle fiber to become irregular, leading to the "ragged" appearance.
116:. The classification of this disease varies from patient to patient, since many individuals do not fall into one specific disease category. The primary features displayed on a person with MERRF include
252:-Lys. This disrupts the synthesis of proteins. The remaining mutations only account for 10% of cases, and the remaining 10% of the patients with MERRF did not have an identifiable mutation in the
639:
413:
are run to identify the reason of for the mutations underlying the mitochondrial dysfunction. This approach will avoid the need for a muscle biopsy or an exhaustive metabolic evaluation. After
2613:
1601:
2133:
1021:
Nakamura M, Nakano S, Goto Y, et al. (September 1995). "A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome".
2749:
777:. In Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E.; Bean, Lora J.H.; Mefford, Heather C.; Stephens, Karen; Amemiya, Anne; Ledbetter, Nikki (eds.).
743:. In Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E.; Bean, Lora J.H.; Mefford, Heather C.; Stephens, Karen; Amemiya, Anne; Ledbetter, Nikki (eds.).
2584:
2126:
429:
can be identified which are associated with MERRF: A8344G, T8356C, G8361A, and G8363A. The point mutation A8344G is mostly associated with MERRF, in a study published by
880:
1479:
978:
Zeviani M, Muntoni F, Savarese N, et al. (1993). "A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene".
1704:
2608:
1580:
1538:
590:
in hopes of improving mitochondrial function. The treatment only alleviates symptoms, and these do not prevent the disease from progressing. Patients with
233:
354:) have been associated with these diseases, and studies have been able to assign biochemical defects. One of these defects has to do with the decreased
93:
2638:
1989:
2072:
1496:
832:
Melone MA, Tessa A, Petrini S, et al. (February 2004). "Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype".
198:
2297:
2254:
1533:
651:
of these mutations is limited, there is no efficient method to treat their associated mitochondrial diseases. All pathogenic mutants displayed
2346:
2190:
2302:
2226:
1903:
2764:
1472:
445:
If a patient does not exhibit mitochondrial DNA mutations, there are other ways that they can be diagnosed with MERRF. They can go through
108:. The causes of MERRF syndrome are difficult to determine, but because it is a mitochondrial disorder, it can be caused by the mutation of
248:
stated that 80% of the patients with MERRF disease exhibited this point mutation. This point mutation disrupts the mitochondrial gene for
2036:
1697:
1383:
957:
2395:
2249:
1966:
2051:
1923:
1875:
1509:
591:
1108:"Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome"
315:
accumulate in the subsarcolemmal region of the muscle fiber and appear as "Ragged Red Fibers" when muscle is stained with modified
302:
1994:
1657:
2744:
2511:
1797:
1672:
1562:
1504:
1465:
881:"Myoclonus Epilepsy Associated with Ragged-Red Fibers (MERRF) Diagnosis Discussed by Researchers - Mitochondrial Disease News"
2579:
2499:
2287:
2244:
2202:
2170:
2166:
2011:
1984:
1690:
1227:
805:
648:
2334:
1106:
Ling, Jiqiang; Roy, Hervé; Qin, Daoming; Rubio, Mary Anne T.; Alfonzo, Juan D.; Fredrick, Kurt; Ibba, Michael (2007-09-25).
2691:
2504:
2292:
1325:
1056:
Mancuso M, Filosto M, Mootha VK, et al. (June 2004). "A novel mitochondrial tRNAPhe mutation causes MERRF syndrome".
2046:
629:, and showed significant amounts of the common 5 kb and 7.4 kb mitochondrial DNA deletions, which are also detectable in
2387:
2381:
2118:
1961:
1623:
2307:
1928:
1173:
McKenzie, Matthew; Liolitsa, Danae; Hanna, Michael G. (2004-03-01). "Mitochondrial
Disease: Mutations and Mechanisms".
643:
published an article in 2007 investigating the human mitochondrial tRNA (hmt-tRNA) mutations which are associated with
367:
316:
2339:
2016:
1933:
1629:
450:
2603:
1556:
461:
A detailed family history should be obtained from at least three generations, particularly if there have been any
2264:
2084:
2574:
1880:
1394:
1329:
1313:
2759:
2754:
2686:
1845:
1810:
85:
570:, there is no cure for MERRF, no matter the means for diagnosis of the disease. The treatment is primarily
2589:
2482:
2401:
2154:
1860:
1840:
1780:
1548:
644:
535:
132:, and ragged red fibers (RRF) on muscle biopsy, leading to the disease's name. Secondary features include
430:
2714:
2158:
1918:
1865:
1596:
1488:
1445:
705:
695:
619:
567:
186:
141:
81:
622:
through a simple swabbing technique. This is a less invasive technique which allows for an analysis of
1320:
2527:
2101:
1895:
1885:
1805:
1756:
1119:
434:
245:
558:
system, or short stature might all be examples of patients with possible symptoms of MERRF disease.
63:
2719:
2696:
2668:
2656:
2274:
2089:
2056:
1372:
446:
2663:
2565:
2491:
2453:
2319:
2259:
2236:
2221:
1976:
1953:
1288:
1206:
1081:
1003:
857:
531:
398:
varies from individual to individual. Each is evaluated and diagnosed according to age, clinical
331:
The mechanism by which MERRFs syndrome occur is not yet well understood. The human mitochondrial
1250:
2643:
2624:
2415:
2185:
2041:
1870:
1713:
1405:
1280:
1198:
1190:
1155:
1137:
1073:
1038:
995:
940:
932:
849:
782:
748:
736:
626:
595:
586:
processing that results in the disease. There is very little success with these treatments as
439:
418:
371:
347:
253:
194:
170:
166:
149:
125:
121:
113:
52:
2673:
2373:
2367:
2106:
2095:
1938:
1850:
1751:
1606:
1272:
1182:
1145:
1127:
1065:
1030:
987:
922:
911:"When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?"
841:
523:
39:
2475:
2458:
2078:
1943:
1908:
1746:
1741:
1309:
618:
published a paper in 2011 that discusses possible new methods to test for MERRF and other
495:
487:
410:
402:, and pressed inheritance pattern. If the individual has been experiencing myoclonus, the
379:
240:
1186:
1123:
2593:
2551:
2463:
2004:
1913:
1787:
1772:
1736:
1643:
1568:
1528:
1520:
1377:
1150:
1107:
1069:
666:
511:
422:
359:
97:
677:
MERRF syndrome was the final diagnosis of seventh episode of third season on the show
2738:
2470:
2432:
2282:
2195:
1829:
1820:
1731:
539:
406:
will run a series of genetic studies to determine if it is a mitochondrial disorder.
222:
1292:
1210:
1085:
1007:
2650:
2409:
861:
575:
551:
503:
383:
332:
312:
89:
1399:
2632:
1429:
678:
579:
378:. This appearance is due to the accumulation of abnormal mitochondria below the
236:
109:
105:
1410:
1112:
Proceedings of the
National Academy of Sciences of the United States of America
2420:
2328:
2179:
1434:
1362:
927:
910:
845:
774:
740:
724:
652:
583:
555:
499:
414:
375:
190:
145:
1276:
1194:
1141:
936:
1132:
700:
659:
655:
466:
403:
399:
395:
162:
117:
101:
100:. The signs and symptoms of this disorder appear at an early age, generally
57:
1284:
1202:
1159:
1077:
1034:
944:
853:
786:
752:
209:
1042:
999:
2446:
2212:
1717:
1457:
1440:
690:
662:
599:
527:
479:
475:
462:
343:
335:
218:
178:
174:
133:
129:
1682:
1345:
603:
587:
571:
519:
491:
339:
182:
137:
92:. MERRF syndrome affects different parts of the body, particularly the
991:
2555:
2150:
1651:
1357:
543:
515:
483:
426:
363:
355:
287:
282:
272:
225:
152:. Mitochondrial disorders, including MERRFS, may present at any age.
962:
MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF - 545000
1637:
630:
623:
507:
471:
351:
292:
277:
267:
229:
208:
1388:
961:
547:
260:
249:
2122:
1686:
1461:
474:
condition that a family member has been record to have such as
486:, or stroke-like episodes. There may also be optic atrophy,
1228:"Mitochondrial myopathies: Clinical features and diagnosis"
806:"Mitochondrial myopathies: Clinical features and diagnosis"
640:
National
Academy of Science of the United States of America
542:, as well as episodes of nausea or vomiting. Multiple
1335:
2707:
2623:
2564:
2540:
2520:
2490:
2445:
2431:
2359:
2318:
2273:
2235:
2220:
2211:
2165:
2065:
2029:
1975:
1952:
1894:
1828:
1819:
1796:
1765:
1724:
1615:
1589:
1547:
1518:
1495:
1420:
1339:
781:. Seattle (WA): University of Washington, Seattle.
747:. Seattle (WA): University of Washington, Seattle.
84:. It is extremely rare, and has varying degrees of
51:
29:
24:
228:. This means that it is a pathological variant in
647:. Since the current understanding of the precise
606:, are treated in combination to manage symptoms.
346:. However, it is understood that defects in the
457:History and physical examination of the patient
827:
825:
2750:Myoneural junction and neuromuscular diseases
2134:
1698:
1473:
973:
971:
969:
8:
1251:Gene reviews: MERRF: Management of patients
514:. The patient's history might also exhibit
298:It involves the following characteristics:
2442:
2232:
2217:
2141:
2127:
2119:
1825:
1705:
1691:
1683:
1480:
1466:
1458:
1336:
232:(mitochondrial DNA) and is transmitted by
62:
38:
21:
1312:at the U.S. National Library of Medicine
1149:
1131:
926:
78:myoclonic epilepsy with ragged red fibers
2073:Citizens United for Research in Epilepsy
717:
538:condition which could have been due to
323:There is currently no cure for MERRF.
217:The cause of MERRF disorder is due to
165:as a first symptom. There may also be
1222:
1220:
1101:
1099:
1097:
1095:
47:"ragged red fibers" in MERRF syndrome
7:
1990:Dentatorubral–pallidoluysian atrophy
903:
901:
875:
873:
871:
800:
798:
796:
768:
766:
764:
762:
534:. The patient might have also had a
433:from the Department of neurology at
2037:Sudden unexpected death in epilepsy
958:Online Mendelian Inheritance in Man
263:are involved. These genes include:
2402:BIN1-linked centronuclear myopathy
1967:Complex partial status epilepticus
1187:10.1023/B:NERE.0000014829.42364.dd
1070:10.1212/01.wnl.0000127608.48406.f1
775:"Mitochondrial Disorders Overview"
498:. Family history may also include
14:
2683:Testosterone deficiency myopathy
2191:Lambert–Eaton myasthenic syndrome
2052:Psychogenic non-epileptic seizure
1924:Benign familial neonatal seizures
1876:Sleep-related hypermotor epilepsy
658:, with the exception of the G34A
338:are associated with a variety of
177:. Secondary features can include
2639:Kocher–Debre–Semelaigne syndrome
2288:Limb-girdle muscular dystrophy 2
2245:Limb-girdle muscular dystrophy 1
1563:Mitochondrial encephalomyopathy
522:dysfunction. There may also be
2580:Fatty-acid metabolism disorder
2203:Congenital myasthenic syndrome
2012:Early myoclonic encephalopathy
1985:Progressive myoclonus epilepsy
303:progressive myoclonic epilepsy
199:Wolff Parkinson-White syndrome
1:
2692:Hypogonadotropic hypogonadism
1023:Biochem. Biophys. Res. Commun
915:Arquivos de Neuro-Psiquiatria
773:Chinnery, Patrick F. (1993).
197:, and/or cardiomyopathy with
1962:Epilepsia partialis continua
2765:Syndromes affecting hearing
2017:Juvenile myoclonic epilepsy
1995:Unverricht–Lundborg disease
550:, sideroblastic anemia and
518:problems, such as proximal
2781:
1934:Myoclonic astatic epilepsy
1265:Journal of Child Neurology
885:Mitochondrial Disease News
616:Journal of Child Neurology
578:, B complex vitamins, and
451:magnetic resonance imaging
2669:Hyperparathyroid myopathy
2085:Epilepsy Action Australia
1668:
928:10.1590/0004-282x20140124
846:10.1001/archneur.61.2.269
739:; Hirano, Michio (1993).
582:are used for the altered
213:Mitochondrial inheritance
46:
37:
2664:Hypoparathyroid myopathy
2575:Glycogen storage disease
2047:Landau–Kleffner syndrome
1881:Panayiotopoulos syndrome
1658:Mohr–Tranebjærg syndrome
1314:Medical Subject Headings
1277:10.1177/0883073811420870
665:, which solely affected
645:mitochondrial myopathies
342:including mitochondrial
2687:Late-onset hypogonadism
2678:Corticosteroid myopathy
2396:adaptor protein disease
1929:Lennox–Gastaut syndrome
1811:Epilepsy and employment
1630:Kjer's optic neuropathy
1497:Carbohydrate metabolism
1133:10.1073/pnas.0704441104
311:" - clumps of diseased
2745:Mitochondrial diseases
2590:Mitochondrial myopathy
2483:Paramyotonia congenita
2155:neuromuscular junction
1861:Temporal lobe epilepsy
1781:Electroencephalography
1673:mitochondrial proteins
1489:Mitochondrial diseases
1175:Neurochemical Research
1035:10.1006/bbrc.1995.2260
620:mitochondrial diseases
568:mitochondrial diseases
374:are visible under the
317:Gömöri trichrome stain
214:
185:, bilateral deafness,
140:, bilateral deafness,
16:Mitochondrial disorder
2715:Inflammatory myopathy
2159:neuromuscular disease
1866:Frontal lobe epilepsy
696:Mitochondrial disease
419:mitochondrial genomes
212:
187:peripheral neuropathy
142:peripheral neuropathy
82:mitochondrial disease
2528:Central core disease
2410:cytoskeleton disease
2102:Epilepsy Research UK
1886:Vertiginous epilepsy
1806:Epilepsy and driving
1757:Epilepsy in children
649:molecular mechanisms
526:conditions, such as
435:University of Panama
246:University of Panama
2720:Congenital myopathy
2697:Androgen deficiency
2657:Thyrotoxic myopathy
2255:Facioscapulohumeral
2090:Epilepsy Foundation
2057:Epilepsy in animals
1737:Aura (warning sign)
1124:2007PNAS..10415299L
1118:(39): 15299–15304.
725:Gene Reviews: MERRF
673:Society and culture
638:Proceedings of the
592:concomitant disease
510:conditions such as
447:computed tomography
431:Paul Jose Lorenzoni
2566:Metabolic myopathy
2492:Periodic paralysis
2454:Myotonia congenita
2222:Muscular dystrophy
1977:Myoclonic epilepsy
1954:Status epilepticus
1421:External resources
980:Eur. J. Hum. Genet
737:DiMauro, Salvatore
532:hypoparathyroidism
490:with a history of
215:
156:Symptoms and signs
2732:
2731:
2728:
2727:
2644:Hoffmann syndrome
2536:
2535:
2416:Nemaline myopathy
2355:
2354:
2186:Myasthenia gravis
2116:
2115:
2030:Related disorders
2025:
2024:
1871:Rolandic epilepsy
1680:
1679:
1590:No primary system
1455:
1454:
992:10.1159/000472390
706:Ragged red fibers
627:mitochondrial DNA
440:mitochondrial DNA
372:ragged red fibers
370:, characteristic
366:are stained with
348:mitochondrial DNA
309:Ragged Red Fibers
254:mitochondrial DNA
195:multiple lipomata
171:cerebellar ataxia
150:multiple lipomata
126:cerebellar ataxia
114:mitochondrial DNA
71:
70:
33:Fukuhara syndrome
19:Medical condition
2772:
2674:Hypercortisolism
2585:AMPD1 deficiency
2541:ATPase disorder
2443:
2374:Bethlem myopathy
2368:collagen disease
2360:Other structural
2233:
2218:
2171:junction disease
2143:
2136:
2129:
2120:
2107:Epilepsy Society
2096:Epilepsy Outlook
1939:Epileptic spasms
1851:Gelastic seizure
1826:
1752:Neonatal seizure
1707:
1700:
1693:
1684:
1607:Pearson syndrome
1482:
1475:
1468:
1459:
1337:
1297:
1296:
1259:
1253:
1248:
1242:
1241:
1239:
1238:
1232:www.uptodate.com
1224:
1215:
1214:
1170:
1164:
1163:
1153:
1135:
1103:
1090:
1089:
1053:
1047:
1046:
1018:
1012:
1011:
975:
964:
955:
949:
948:
930:
905:
896:
895:
893:
892:
877:
866:
865:
829:
820:
819:
817:
816:
810:www.uptodate.com
802:
791:
790:
770:
757:
756:
733:
727:
722:
574:. High doses of
536:gastrointestinal
423:points mutations
368:Gömöri trichrome
67:
66:
42:
22:
2780:
2779:
2775:
2774:
2773:
2771:
2770:
2769:
2735:
2734:
2733:
2724:
2703:
2619:
2560:
2532:
2516:
2486:
2476:Isaacs syndrome
2459:Thomsen disease
2427:
2351:
2314:
2269:
2250:Oculopharyngeal
2224:
2207:
2169:
2161:
2147:
2117:
2112:
2079:Epilepsy Action
2061:
2021:
1971:
1948:
1944:Febrile seizure
1909:Absence seizure
1890:
1846:Complex partial
1815:
1798:Personal issues
1792:
1777:Investigations
1773:Anticonvulsants
1761:
1747:Epileptogenesis
1742:Postictal state
1720:
1711:
1681:
1676:
1664:
1611:
1585:
1543:
1514:
1491:
1486:
1456:
1451:
1450:
1416:
1415:
1348:
1306:
1301:
1300:
1261:
1260:
1256:
1249:
1245:
1236:
1234:
1226:
1225:
1218:
1172:
1171:
1167:
1105:
1104:
1093:
1064:(11): 2119–21.
1055:
1054:
1050:
1020:
1019:
1015:
977:
976:
967:
956:
952:
921:(10): 803–811.
907:
906:
899:
890:
888:
879:
878:
869:
831:
830:
823:
814:
812:
804:
803:
794:
772:
771:
760:
735:
734:
730:
723:
719:
714:
687:
675:
612:
564:
494:, weakness, or
488:skeletal muscle
459:
411:genetic studies
392:
380:plasma membrane
329:
241:point mutations
207:
158:
61:
20:
17:
12:
11:
5:
2778:
2776:
2768:
2767:
2762:
2760:Epilepsy types
2757:
2755:Rare syndromes
2752:
2747:
2737:
2736:
2730:
2729:
2726:
2725:
2723:
2722:
2717:
2711:
2709:
2705:
2704:
2702:
2701:
2700:
2699:
2694:
2689:
2681:
2680:
2679:
2671:
2666:
2661:
2660:
2659:
2648:
2647:
2646:
2641:
2629:
2627:
2625:Endocrinopathy
2621:
2620:
2618:
2617:
2611:
2606:
2601:
2596:
2587:
2582:
2577:
2570:
2568:
2562:
2561:
2559:
2549:
2547:
2546:
2545:
2538:
2537:
2534:
2533:
2531:
2530:
2524:
2522:
2518:
2517:
2515:
2514:
2509:
2508:
2507:
2496:
2494:
2488:
2487:
2485:
2480:
2479:
2478:
2468:
2467:
2466:
2464:Becker disease
2461:
2451:
2449:
2440:
2439:
2438:
2429:
2428:
2426:
2425:
2424:
2423:
2418:
2406:
2405:
2404:
2392:
2391:
2390:
2378:
2377:
2376:
2363:
2361:
2357:
2356:
2353:
2352:
2350:
2349:
2347:Emery–Dreifuss
2344:
2343:
2342:
2337:
2324:
2322:
2316:
2315:
2313:
2312:
2311:
2310:
2308:Walker–Warburg
2305:
2300:
2290:
2285:
2279:
2277:
2271:
2270:
2268:
2267:
2262:
2257:
2252:
2247:
2241:
2239:
2230:
2215:
2209:
2208:
2206:
2205:
2200:
2199:
2198:
2193:
2188:
2175:
2173:
2167:Neuromuscular-
2163:
2162:
2148:
2146:
2145:
2138:
2131:
2123:
2114:
2113:
2111:
2110:
2104:
2099:
2093:
2087:
2082:
2076:
2069:
2067:
2063:
2062:
2060:
2059:
2054:
2049:
2044:
2042:Todd's paresis
2039:
2033:
2031:
2027:
2026:
2023:
2022:
2020:
2019:
2014:
2009:
2008:
2007:
2005:Lafora disease
2002:
2000:MERRF syndrome
1997:
1992:
1981:
1979:
1973:
1972:
1970:
1969:
1964:
1958:
1956:
1950:
1949:
1947:
1946:
1941:
1936:
1931:
1926:
1921:
1916:
1914:Atonic seizure
1911:
1906:
1900:
1898:
1892:
1891:
1889:
1888:
1883:
1878:
1873:
1868:
1863:
1858:
1854:
1853:
1848:
1843:
1841:Simple partial
1838:
1834:
1832:
1823:
1817:
1816:
1814:
1813:
1808:
1802:
1800:
1794:
1793:
1791:
1790:
1788:Epileptologist
1785:
1784:
1783:
1775:
1769:
1767:
1763:
1762:
1760:
1759:
1754:
1749:
1744:
1739:
1734:
1728:
1726:
1722:
1721:
1712:
1710:
1709:
1702:
1695:
1687:
1678:
1677:
1669:
1666:
1665:
1663:
1662:
1661:
1660:
1648:
1647:
1646:
1644:HUPRA syndrome
1634:
1633:
1632:
1619:
1617:
1613:
1612:
1610:
1609:
1604:
1599:
1593:
1591:
1587:
1586:
1584:
1583:
1578:
1577:
1576:
1571:
1559:
1553:
1551:
1545:
1544:
1542:
1541:
1536:
1531:
1525:
1523:
1521:nervous system
1516:
1515:
1513:
1512:
1507:
1501:
1499:
1493:
1492:
1487:
1485:
1484:
1477:
1470:
1462:
1453:
1452:
1449:
1448:
1437:
1425:
1424:
1422:
1418:
1417:
1414:
1413:
1402:
1391:
1380:
1365:
1349:
1344:
1343:
1341:
1340:Classification
1334:
1333:
1317:
1310:MERRF+Syndrome
1305:
1304:External links
1302:
1299:
1298:
1271:(3): 398–401.
1254:
1243:
1216:
1181:(3): 589–600.
1165:
1091:
1048:
1013:
965:
950:
897:
867:
821:
792:
758:
728:
716:
715:
713:
710:
709:
708:
703:
698:
693:
686:
683:
674:
671:
667:aminoacylation
611:
608:
563:
560:
512:cardiomyopathy
458:
455:
409:The molecular
391:
388:
362:processes. As
358:available for
328:
325:
321:
320:
305:
296:
295:
290:
285:
280:
275:
270:
206:
203:
157:
154:
98:nervous system
74:MERRF syndrome
69:
68:
55:
49:
48:
44:
43:
35:
34:
31:
27:
26:
25:MERRF syndrome
18:
15:
13:
10:
9:
6:
4:
3:
2:
2777:
2766:
2763:
2761:
2758:
2756:
2753:
2751:
2748:
2746:
2743:
2742:
2740:
2721:
2718:
2716:
2713:
2712:
2710:
2706:
2698:
2695:
2693:
2690:
2688:
2685:
2684:
2682:
2677:
2676:
2675:
2672:
2670:
2667:
2665:
2662:
2658:
2655:
2654:
2652:
2649:
2645:
2642:
2640:
2637:
2636:
2634:
2631:
2630:
2628:
2626:
2622:
2615:
2612:
2610:
2607:
2605:
2602:
2600:
2597:
2595:
2591:
2588:
2586:
2583:
2581:
2578:
2576:
2572:
2571:
2569:
2567:
2563:
2557:
2553:
2552:Brody disease
2550:
2548:
2543:
2542:
2539:
2529:
2526:
2525:
2523:
2519:
2513:
2510:
2506:
2503:
2502:
2501:
2498:
2497:
2495:
2493:
2489:
2484:
2481:
2477:
2474:
2473:
2472:
2471:Neuromyotonia
2469:
2465:
2462:
2460:
2457:
2456:
2455:
2452:
2450:
2448:
2444:
2441:
2437:(ion channel)
2436:
2435:
2434:
2433:Channelopathy
2430:
2422:
2419:
2417:
2414:
2413:
2412:
2411:
2407:
2403:
2400:
2399:
2398:
2397:
2393:
2389:
2386:
2385:
2384:
2383:
2379:
2375:
2372:
2371:
2370:
2369:
2365:
2364:
2362:
2358:
2348:
2345:
2341:
2338:
2336:
2333:
2332:
2331:
2330:
2326:
2325:
2323:
2321:
2317:
2309:
2306:
2304:
2301:
2299:
2296:
2295:
2294:
2291:
2289:
2286:
2284:
2283:Calpainopathy
2281:
2280:
2278:
2276:
2272:
2266:
2265:Distal (most)
2263:
2261:
2258:
2256:
2253:
2251:
2248:
2246:
2243:
2242:
2240:
2238:
2234:
2231:
2228:
2223:
2219:
2216:
2214:
2210:
2204:
2201:
2197:
2196:Neuromyotonia
2194:
2192:
2189:
2187:
2184:
2183:
2182:
2181:
2177:
2176:
2174:
2172:
2168:
2164:
2160:
2156:
2152:
2144:
2139:
2137:
2132:
2130:
2125:
2124:
2121:
2108:
2105:
2103:
2100:
2097:
2094:
2091:
2088:
2086:
2083:
2080:
2077:
2074:
2071:
2070:
2068:
2066:Organizations
2064:
2058:
2055:
2053:
2050:
2048:
2045:
2043:
2040:
2038:
2035:
2034:
2032:
2028:
2018:
2015:
2013:
2010:
2006:
2003:
2001:
1998:
1996:
1993:
1991:
1988:
1987:
1986:
1983:
1982:
1980:
1978:
1974:
1968:
1965:
1963:
1960:
1959:
1957:
1955:
1951:
1945:
1942:
1940:
1937:
1935:
1932:
1930:
1927:
1925:
1922:
1920:
1917:
1915:
1912:
1910:
1907:
1905:
1902:
1901:
1899:
1897:
1893:
1887:
1884:
1882:
1879:
1877:
1874:
1872:
1869:
1867:
1864:
1862:
1859:
1856:
1855:
1852:
1849:
1847:
1844:
1842:
1839:
1836:
1835:
1833:
1831:
1827:
1824:
1822:
1821:Seizure types
1818:
1812:
1809:
1807:
1804:
1803:
1801:
1799:
1795:
1789:
1786:
1782:
1779:
1778:
1776:
1774:
1771:
1770:
1768:
1764:
1758:
1755:
1753:
1750:
1748:
1745:
1743:
1740:
1738:
1735:
1733:
1732:Seizure types
1730:
1729:
1727:
1723:
1719:
1715:
1708:
1703:
1701:
1696:
1694:
1689:
1688:
1685:
1675:
1674:
1667:
1659:
1656:
1655:
1654:
1653:
1649:
1645:
1642:
1641:
1640:
1639:
1635:
1631:
1628:
1627:
1626:
1625:
1621:
1620:
1618:
1614:
1608:
1605:
1603:
1600:
1598:
1595:
1594:
1592:
1588:
1582:
1579:
1575:
1572:
1570:
1567:
1566:
1565:
1564:
1560:
1558:
1555:
1554:
1552:
1550:
1546:
1540:
1537:
1535:
1532:
1530:
1529:Leigh disease
1527:
1526:
1524:
1522:
1517:
1511:
1508:
1506:
1503:
1502:
1500:
1498:
1494:
1490:
1483:
1478:
1476:
1471:
1469:
1464:
1463:
1460:
1447:
1443:
1442:
1438:
1436:
1432:
1431:
1427:
1426:
1423:
1419:
1412:
1408:
1407:
1403:
1401:
1397:
1396:
1392:
1390:
1386:
1385:
1381:
1379:
1375:
1374:
1370:
1366:
1364:
1360:
1359:
1355:
1351:
1350:
1347:
1342:
1338:
1331:
1327:
1323:
1322:
1318:
1315:
1311:
1308:
1307:
1303:
1294:
1290:
1286:
1282:
1278:
1274:
1270:
1266:
1258:
1255:
1252:
1247:
1244:
1233:
1229:
1223:
1221:
1217:
1212:
1208:
1204:
1200:
1196:
1192:
1188:
1184:
1180:
1176:
1169:
1166:
1161:
1157:
1152:
1147:
1143:
1139:
1134:
1129:
1125:
1121:
1117:
1113:
1109:
1102:
1100:
1098:
1096:
1092:
1087:
1083:
1079:
1075:
1071:
1067:
1063:
1059:
1052:
1049:
1044:
1040:
1036:
1032:
1028:
1024:
1017:
1014:
1009:
1005:
1001:
997:
993:
989:
985:
981:
974:
972:
970:
966:
963:
959:
954:
951:
946:
942:
938:
934:
929:
924:
920:
916:
912:
904:
902:
898:
886:
882:
876:
874:
872:
868:
863:
859:
855:
851:
847:
843:
840:(2): 269–72.
839:
835:
828:
826:
822:
811:
807:
801:
799:
797:
793:
788:
784:
780:
776:
769:
767:
765:
763:
759:
754:
750:
746:
742:
738:
732:
729:
726:
721:
718:
711:
707:
704:
702:
699:
697:
694:
692:
689:
688:
684:
682:
680:
672:
670:
668:
664:
661:
657:
654:
650:
646:
642:
641:
634:
632:
628:
625:
621:
617:
609:
607:
605:
602:, or cardiac
601:
597:
593:
589:
585:
581:
577:
573:
569:
561:
559:
557:
553:
549:
545:
541:
540:liver disease
537:
533:
529:
525:
521:
517:
513:
509:
505:
501:
497:
493:
489:
485:
481:
477:
473:
468:
464:
456:
454:
452:
448:
443:
441:
436:
432:
428:
424:
420:
416:
412:
407:
405:
401:
397:
389:
387:
385:
381:
377:
373:
369:
365:
361:
357:
353:
349:
345:
341:
337:
334:
326:
324:
318:
314:
310:
306:
304:
301:
300:
299:
294:
291:
289:
286:
284:
281:
279:
276:
274:
271:
269:
266:
265:
264:
262:
257:
255:
251:
247:
242:
238:
235:
231:
227:
224:
223:mitochondrial
220:
211:
204:
202:
200:
196:
192:
188:
184:
180:
176:
172:
168:
164:
155:
153:
151:
147:
143:
139:
135:
131:
127:
123:
119:
115:
111:
107:
103:
99:
95:
91:
87:
83:
79:
75:
65:
59:
56:
54:
50:
45:
41:
36:
32:
28:
23:
2651:Hyperthyroid
2598:
2512:Hyperkalemic
2408:
2394:
2388:X-linked MTM
2380:
2366:
2327:
2178:
2149:Diseases of
1999:
1904:Tonic–clonic
1670:
1650:
1636:
1622:
1573:
1561:
1439:
1428:
1404:
1393:
1382:
1367:
1352:
1319:
1268:
1264:
1257:
1246:
1235:. Retrieved
1231:
1178:
1174:
1168:
1115:
1111:
1061:
1057:
1051:
1029:(1): 86–93.
1026:
1022:
1016:
983:
979:
953:
918:
914:
889:. Retrieved
887:. 2015-05-04
884:
837:
834:Arch. Neurol
833:
813:. Retrieved
809:
778:
744:
731:
720:
676:
637:
635:
615:
613:
576:coenzyme Q10
565:
552:pancytopenia
504:dysautonomia
460:
444:
408:
393:
384:muscle fiber
330:
322:
313:mitochondria
308:
297:
258:
216:
159:
90:heteroplasmy
86:expressivity
77:
73:
72:
2633:Hypothyroid
2500:Hypokalemic
2382:PTP disease
1896:Generalised
1616:Chromosomal
1430:GeneReviews
986:(1): 80–7.
779:GeneReviews
745:GeneReviews
679:House, M.D.
653:pleiotropic
580:L-Carnitine
572:symptomatic
237:inheritance
110:nuclear DNA
106:adolescence
30:Other names
2739:Categories
2544:(ion pump)
2505:Thyrotoxic
2421:Zaspopathy
2329:dystrophin
2293:Congenital
2180:autoimmune
1919:Automatism
1766:Management
1549:Myopathies
1519:Primarily
1406:DiseasesDB
1237:2017-11-08
891:2017-11-08
815:2017-11-07
712:References
656:phenotypes
594:, such as
566:Like many
500:neuropathy
415:sequencing
376:microscope
344:myopathies
191:spasticity
146:spasticity
2653:myopathy
2635:myopathy
1671:see also
1332:GeneTests
1195:0364-3190
1142:0027-8424
1058:Neurology
937:0004-282X
701:Myoclonus
660:anticodon
588:therapies
584:metabolic
562:Treatment
556:metabolic
524:endocrine
470:such as:
467:childhood
400:phenotype
396:diagnosis
390:Diagnosis
336:mutations
327:Mechanism
219:mutations
163:myoclonus
118:myoclonus
102:childhood
88:owing to
58:Neurology
53:Specialty
2447:Myotonia
2340:Duchenne
2335:Becker's
2298:Fukuyama
2260:Myotonic
2213:Myopathy
1857:Epilepsy
1837:Seizures
1718:epilepsy
1714:Seizures
1441:Orphanet
1293:23912193
1285:22114216
1211:12265373
1203:15038606
1160:17878308
1086:12423569
1078:15184630
1008:22766360
960:(OMIM):
945:25337734
854:14967777
787:20301403
753:20301693
691:Epilepsy
685:See also
663:mutation
610:Research
600:deafness
596:diabetes
528:diabetes
480:dystonia
476:seizures
463:neonatal
449:(CT) or
340:diseases
234:maternal
181:, optic
179:dementia
175:myopathy
167:seizures
136:, optic
134:dementia
130:myopathy
122:seizures
2708:General
2573:Muscle
2303:Ullrich
1400:D017243
1151:2000536
1120:Bibcode
1043:7669057
1000:8069654
862:9418186
741:"MERRF"
604:disease
554:in the
546:in the
544:lipomas
520:nephron
492:myalgia
425:in the
421:, four
382:of the
364:muscles
239:. Four
221:in the
183:atrophy
138:atrophy
94:muscles
80:) is a
2556:ATP2A1
2157:, and
2151:muscle
1725:Basics
1652:TIMM8A
1389:545000
1378:277.87
1316:(MeSH)
1291:
1283:
1209:
1201:
1193:
1158:
1148:
1140:
1084:
1076:
1041:
1006:
998:
943:
935:
860:
852:
785:
751:
624:buccal
516:kidney
496:ptosis
484:ataxia
427:genome
404:doctor
356:energy
288:MT-TS2
283:MT-TS1
273:MT-TL1
226:genome
205:Causes
60:
2614:MNGIE
2599:MERRF
2594:MELAS
2521:Other
1830:Focal
1638:SARS2
1602:MNGIE
1574:MERRF
1569:MELAS
1435:MERRF
1411:30794
1363:G31.8
1321:merrf
1289:S2CID
1207:S2CID
1082:S2CID
1004:S2CID
858:S2CID
631:blood
508:heart
506:, or
472:brain
352:mtDNA
293:MT-TF
278:MT-TH
268:MT-TK
261:genes
259:Many
230:mtDNA
148:, or
2227:DAPC
2109:(UK)
2098:(UK)
2092:(US)
2081:(UK)
2075:(US)
1716:and
1624:OPA1
1581:CPEO
1539:NARP
1534:LHON
1510:PDHA
1395:MeSH
1384:OMIM
1373:9-CM
1281:PMID
1199:PMID
1191:ISSN
1156:PMID
1138:ISSN
1074:PMID
1039:PMID
996:PMID
941:PMID
933:ISSN
850:PMID
783:PMID
749:PMID
636:The
614:The
548:skin
502:and
465:and
417:the
394:The
360:cell
333:tRNA
250:tRNA
173:and
96:and
76:(or
2609:PEO
2604:KSS
1597:DAD
1557:KSS
1505:PCD
1446:551
1369:ICD
1354:ICD
1326:NIH
1324:at
1273:doi
1183:doi
1146:PMC
1128:doi
1116:104
1066:doi
1031:doi
1027:214
988:doi
923:doi
842:doi
530:or
112:or
104:or
2741::
2320:XR
2275:AR
2237:AD
2153:,
1444::
1433::
1409::
1398::
1387::
1376::
1361::
1358:10
1330:UW
1287:.
1279:.
1269:27
1267:.
1230:.
1219:^
1205:.
1197:.
1189:.
1179:29
1177:.
1154:.
1144:.
1136:.
1126:.
1114:.
1110:.
1094:^
1080:.
1072:.
1062:62
1060:.
1037:.
1025:.
1002:.
994:.
982:.
968:^
939:.
931:.
919:72
917:.
913:.
900:^
883:.
870:^
856:.
848:.
838:61
836:.
824:^
808:.
795:^
761:^
681:.
669:.
598:,
482:,
478:,
442:.
256:.
193:,
189:,
169:,
144:,
128:,
124:,
120:,
2616:)
2592:(
2558:)
2554:(
2229:)
2225:(
2142:e
2135:t
2128:v
1706:e
1699:t
1692:v
1481:e
1474:t
1467:v
1371:-
1356:-
1346:D
1328:/
1295:.
1275::
1240:.
1213:.
1185::
1162:.
1130::
1122::
1088:.
1068::
1045:.
1033::
1010:.
990::
984:1
947:.
925::
894:.
864:.
844::
818:.
789:.
755:.
350:(
319:.
307:"
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
