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280:, which is important in anchoring cells to certain molecules, specifically including some proteins. Alpha-dystroglycan in skeletal muscles helps to prevent the breakdown of muscle fibers through stabilization and protection. Alpha-dystroglycan also helps brain development by assisting in the migration of neurons. Most frequently,
357:
treatment exists. Treatment offers preventative tactics to delay muscle breakdown and increase life expectancy. Stretching and physical therapy can increase mobility. Treatment also includes correcting skeletal abnormalities through orthopedic surgery and other orthopedic techniques. Antiepileptic
313:
is used to determine a mutation in the FKTN gene after a serum creatine kinase concentration, muscle biopsies, and/or MRI imaging have presented abnormalities indicative of FCMD, the presence of the symptoms indicates
Fukuyama congenital muscular dystrophy. The available genetic test include:
288:
in the cell, which in turn creates problems during formation of alpha-dystroglycan leading to less stabilization of muscle cells. Use of the destabilized muscle fibers over time causes them to break down and a gradual decline in muscle tone and atrophy of muscle fibers occurs. The decline in
255:
Two mutations have been identified. The first and most common is an SVA retrotransposal insertion in the 3'-untranslated region. The second is a deep-intronic point mutation c.647+2084G>T. This second mutation has only been found to date in the presence of the first mutation.
169:
tone as well as an impairment in brain and eye development. Initial symptoms of FCMD present in early infancy as decreased ability to feed. Marked differences in facial appearance occur due to decreased muscle tone. Further characteristics include:
997:
817:
Sato, Takatoshi; Murakami, Terumi; Ishiguro, Kumiko; Shichiji, Minobu; Saito, Kayoko; Osawa, Makiko; Nagata, Satoru; Ishigaki, Keiko (March 2016). "Respiratory management of patients with
Fukuyama congenital muscular dystrophy".
248:(chromosome 9 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both
374:
Fukuyama congenital muscular dystrophy has a poor prognosis. Most children with FCMD reach a maximum mobility at sitting upright and sliding. Due to the compounded effects of continually worsening heart problems, impaired
198:
Fukuyama congenital muscular dystrophy also affects the nervous system and various associated parts. FCMD affects normal development of the brain producing a broadly smooth, bumpy shaped cortex named cobblestone
1313:
1786:
141:
leading to weakness and deformed appearances, and brain development is blunted affecting cognitive functioning as well as social skills. In 1995, the disorder was linked to mutations in a
1306:
216:
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1811:
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2151:
241:. Mutations in this gene, and therefore the fukutin protein, are the cause of FCMD. The disease is inherited in an autosomal recessive manner.
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1156:
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cerebral fukutin causes neuronal cells to continue moving beyond their intended destination. Additionally, oxidative stress has some effect on
1519:
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Kobayashi, Kazuhiro; Kato, Reiko; Kondo-Iida, Eri; Taniguchi-Ikeda, Mariko; Osawa, Makiko; Saito, Kayoko; Toda, Tatsushi (November 2017).
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help treat heart conditions, and respiratory assistance is more than likely needed at some point for the affected individual.
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2011:
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646:"Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan"
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and additional complications, children with FCMD rarely live through adolescence, the disorder proves fatal by age 20.
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Yamamoto, T; Kato, Y; Kawaguchi-Niida, M; Shibata, N; Osawa, M; Saito, K; Kröger, S; Kobayashi, M (2008-07-01).
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but also identified in
Turkish and Ashkenazi Jewish patients; fifteen cases were first described on 1960 by Dr.
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1999:
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In terms of the signs/symptoms of
Fukuyama congenital muscular dystrophy it is characterized by a decrease in
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1859:
1070:
890:
Aida, N.; Tamagawa, K.; Takada, K.; Yagishita, A.; Kobayashi, N.; Chikumaru, K.; Iwamoto, H. (April 1996).
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1974:
1922:
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1327:
482:
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Fukuyama Y; Kawazura M; Haruna H (1960). "A peculiar form of congenital progressive muscular dystrophy".
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one copy of the defective gene but usually do not experience any signs or symptoms of the disorder.
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693:"Characteristics of neurons and glia in the brain of Fukuyama type congenital muscular dystrophy"
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927:"Fukuyama-type congenital muscular dystrophy and defective glycosylation of α-dystroglycan"
742:"Fukuyama-type congenital muscular dystrophy and defective glycosylation of α-dystroglycan"
276:
gene which results in a malformed fukutin protein. It is thought that fukutin modifies the
2715:
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The mechanism of this sub-type of muscular dystrophy consists of a mutation in the
191:
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gene). Fukuyama congenital muscular dystrophy is the second most prevalent form of
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1984:
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can be obtained to help determine if the individual has FMCD. FKTN molecular
290:
231:
767:
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Fukuyama congenital muscular dystrophy has an autosomal recessive pattern of
2655:
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2256:
2234:
2109:
2073:
645:
563:
317:
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This means the defective gene responsible for the disorder is located on an
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in Japan. One out of every 90 people in Japan is a heterozygous carrier.
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The cause of
Fukuyama congenital muscular dystrophy is rooted in the
17:
861:
Lynn, D. Joanne; Newton, Herbert B.; Rae-Grant, Alexander (2004).
507:"Fukuyama congenital muscular dystrophy - Conditions - GTR - NCBI"
335:
263:
214:
126:
115:
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Currently this sub-type of muscular dystrophy has no cure and no
1014:
608:
538:
454:
Saito, Kayoko (1993). "Fukuyama
Congenital Muscular Dystrophy".
227:
142:
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114:(weakness and breakdown of muscular tissue) mainly described in
1911:
1295:
1083:
207:. Children also experience delayed myelination in the brain.
316:
1907:
796:"Congenital Muscular Dystrophy Treatment & Management"
137:, in particular, the disorder affects development of the
418:"Orphanet: Congenital muscular dystrophy, Fukuyama type"
86:
Serum creatine kinase concentration and muscle biopsies
621:"Autosomal recessive: MedlinePlus Medical Encyclopedia"
358:
medication is administered to help prevent seizures.
925:
Saito, Fumiaki; Matsumura, Kiichiro (December 2011).
979:
892:"Brain MR in Fukuyama congenital muscular dystrophy"
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is mutated in such a way that creates a shortage of
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865:. Lippincott Williams & Wilkins. p. 283.
740:Saito, Fumiaki; Matsumura, Kiichiro (2011-01-01).
203:as well as various other malformations, notably
305:Serum creatine kinase concentration and muscle
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101:Fukuyama congenital muscular dystrophy (FCMD)
8:
41:Congenital muscular dystrophy, Fukuyama type
2212:Reproductive endocrinology and infertility
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2553:Bachelor of Medicine, Bachelor of Surgery
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483:"Fukuyama congenital muscular dystrophy"
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1071:Fukuyama congenital muscular dystrophy
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33:Fukuyama congenital muscular dystrophy
460:. University of Washington, Seattle.
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7:
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2452:Physical medicine and rehabilitation
1188:National/International Organizations
412:
410:
408:
2701:
605:Online Mendelian Inheritance in Man
535:Online Mendelian Inheritance in Man
2588:Medical Scientist Training Program
1575:BIN1-linked centronuclear myopathy
896:American Journal of Neuroradiology
25:
1856:Testosterone deficiency myopathy
1364:Lambert–Eaton myasthenic syndrome
2720:
2710:
2700:
2690:
2681:
2680:
1812:Kocher–Debre–Semelaigne syndrome
1461:Limb-girdle muscular dystrophy 2
1418:Limb-girdle muscular dystrophy 1
1276:
1275:
1053:
962:Fukuyama type muscular dystrophy
2721:
2578:Doctor of Osteopathic Medicine
2012:Oral and maxillofacial surgery
1753:Fatty-acid metabolism disorder
1376:Congenital myasthenic syndrome
1195:Muscular Dystrophy Association
1162:Limb–girdle muscular dystrophy
863:The 5-minute Neurology Consult
832:10.1016/j.braindev.2015.08.010
552:Paediatria Universitatis Tokyo
1:
1865:Hypogonadotropic hypogonadism
1221:National/International Events
1206:Myotonic Dystrophy Foundation
393:Congenital muscular dystrophy
2558:Bachelor of Medical Sciences
2325:Neurosurgical anesthesiology
340:Sequence analysis - entire
297:) when fukutin is subdued.
2768:
278:alpha-dystroglycan protein
2676:
1842:Hyperparathyroid myopathy
1271:
1201:Muscular Dystrophy Canada
650:Journal of Human Genetics
580:MRI of the Neonatal Brain
577:Rutherford, Mary (2012).
485:. Genetics Home Reference
54:
45:
2512:Transplantation medicine
2403:Clinical neurophysiology
2320:Obstetric anesthesiology
2240:Interventional radiology
2000:Digestive system surgery
1837:Hypoparathyroid myopathy
1748:Glycogen storage disease
237:, encoding the protein
125:FCMD mainly affects the
2383:Intensive care medicine
2357:Mass gathering medicine
2202:Maternal–fetal medicine
1860:Late-onset hypogonadism
1851:Corticosteroid myopathy
1569:adaptor protein disease
145:coding for the protein
1975:Cardiothoracic surgery
1763:Mitochondrial myopathy
1656:Paramyotonia congenita
1328:neuromuscular junction
944:10.1186/2044-5040-1-22
759:10.1186/2044-5040-1-22
379:development, problems
321:
269:
220:
2626:Personalized medicine
2485:Reproductive medicine
2410:Occupational medicine
2364:Evolutionary medicine
1888:Inflammatory myopathy
1332:neuromuscular disease
820:Brain and Development
320:
267:
218:
188:Swallowing difficulty
2646:Traditional medicine
2606:Alternative medicine
2473:Addiction psychiatry
2287:Transfusion medicine
2282:Medical microbiology
2197:Gynecologic oncology
2049:Reproductive surgery
1701:Central core disease
1583:cytoskeleton disease
1263:Stamulumab (MYO-029)
1236:(defunct; US/Canada)
511:www.ncbi.nlm.nih.gov
334:Sequence analysis -
179:Delay in development
2668:History of medicine
2651:Veterinary medicine
2458:Preventive medicine
2310:Adolescent medicine
2152:Infectious diseases
1893:Congenital myopathy
1870:Androgen deficiency
1830:Thyrotoxic myopathy
1428:Facioscapulohumeral
1157:Facioscapulohumeral
662:10.1038/jhg.2017.71
230:, located at human
2747:Muscular dystrophy
2616:Molecular oncology
2573:Doctor of Medicine
2563:Master of Medicine
2480:Radiation oncology
2352:Emergency medicine
2305:Addiction medicine
2272:Clinical chemistry
2267:Clinical pathology
2059:Transplant surgery
2017:Orthopedic surgery
1995:Colorectal surgery
1739:Metabolic myopathy
1665:Periodic paralysis
1627:Myotonia congenita
1395:Muscular dystrophy
1234:Labor Day Telethon
1111:Muscular dystrophy
1025:External resources
322:
270:
221:
161:Symptoms and signs
155:muscular dystrophy
112:muscular dystrophy
76:FKTN gene mutation
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2568:Master of Surgery
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2517:Tropical medicine
2463:Prison healthcare
2378:Hospital medicine
2342:Disaster medicine
2332:Aviation medicine
2147:Hospital medicine
2054:Surgical oncology
2039:Pediatric surgery
2033:
1980:Endocrine surgery
1905:
1904:
1901:
1900:
1817:Hoffmann syndrome
1709:
1708:
1589:Nemaline myopathy
1528:
1527:
1359:Myasthenia gravis
1289:
1288:
1211:Muskelsvindfonden
1048:
1047:
872:978-0-683-30723-8
590:978-0-7020-2534-1
583:. W.B. Saunders.
98:
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82:Diagnostic method
27:Medical condition
16:(Redirected from
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2388:Medical genetics
2373:General practice
2250:Nuclear medicine
2125:Gastroenterology
2081:Vascular surgery
2031:
1958:
1932:
1925:
1918:
1909:
1847:Hypercortisolism
1758:AMPD1 deficiency
1714:ATPase disorder
1616:
1547:Bethlem myopathy
1541:collagen disease
1533:Other structural
1406:
1391:
1344:junction disease
1316:
1309:
1302:
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1130:Dystrophinopathy
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139:skeletal muscles
94:Physical therapy
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2661:Chief physician
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2522:Travel medicine
2507:Sports medicine
2490:Sexual medicine
2430:Palliative care
2425:Pain management
2369:Family medicine
2347:Diving medicine
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2044:Plastic surgery
1990:General surgery
1970:Cardiac surgery
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1649:Isaacs syndrome
1632:Thomsen disease
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1423:Oculopharyngeal
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656:(11): 945–948.
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1710:
1707:
1706:
1704:
1703:
1697:
1695:
1691:
1690:
1688:
1687:
1682:
1681:
1680:
1669:
1667:
1661:
1660:
1658:
1653:
1652:
1651:
1641:
1640:
1639:
1637:Becker disease
1634:
1624:
1622:
1613:
1612:
1611:
1602:
1601:
1599:
1598:
1597:
1596:
1591:
1579:
1578:
1577:
1565:
1564:
1563:
1551:
1550:
1549:
1536:
1534:
1530:
1529:
1526:
1525:
1523:
1522:
1520:Emery–Dreifuss
1517:
1516:
1515:
1510:
1497:
1495:
1489:
1488:
1486:
1485:
1484:
1483:
1481:Walker–Warburg
1478:
1473:
1463:
1458:
1452:
1450:
1444:
1443:
1441:
1440:
1435:
1430:
1425:
1420:
1414:
1412:
1403:
1388:
1382:
1381:
1379:
1378:
1373:
1372:
1371:
1366:
1361:
1348:
1346:
1340:Neuromuscular-
1336:
1335:
1321:
1319:
1318:
1311:
1304:
1296:
1287:
1286:
1284:
1283:
1272:
1269:
1268:
1266:
1265:
1259:
1257:
1253:
1252:
1250:
1249:
1243:
1237:
1231:
1224:
1222:
1218:
1217:
1215:
1214:
1208:
1203:
1198:
1191:
1189:
1185:
1184:
1182:
1181:
1176:
1171:
1170:
1169:
1159:
1154:
1152:Emery-Dreifuss
1149:
1144:
1143:
1142:
1137:
1127:
1121:
1119:
1115:
1114:
1109:
1107:
1106:
1099:
1092:
1084:
1059:
1052:
1051:
1050:
1046:
1045:
1042:
1041:
1029:
1028:
1026:
1022:
1021:
1018:
1017:
1006:
993:
988:
987:
985:
984:Classification
977:
976:External links
974:
973:
972:
959:
922:
902:(4): 605–613.
885:
882:
879:
878:
871:
853:
826:(3): 324–330.
809:
783:
732:
697:Acta Myologica
683:
636:
612:
597:
589:
569:
542:
522:
495:
471:
433:
403:
402:
400:
397:
396:
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388:
385:
371:
368:
360:ACE inhibitors
350:
347:
346:
345:
338:
332:
326:
302:
299:
261:
258:
212:
209:
205:micropolygyria
196:
195:
189:
186:
180:
177:
162:
159:
120:Yukio Fukuyama
96:
95:
92:
88:
87:
84:
78:
77:
74:
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69:
66:
60:
59:
52:
51:
43:
42:
39:
35:
34:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
2764:
2753:
2752:Rare diseases
2750:
2748:
2745:
2744:
2742:
2727:
2719:
2717:
2713:
2709:
2707:
2699:
2697:
2689:
2687:
2679:
2678:
2675:
2669:
2666:
2662:
2659:
2658:
2657:
2654:
2652:
2649:
2647:
2644:
2642:
2639:
2637:
2634:
2632:
2631:Public health
2629:
2627:
2624:
2622:
2619:
2617:
2614:
2612:
2611:Allied health
2609:
2607:
2604:
2603:
2601:
2597:
2589:
2586:
2585:
2584:
2581:
2579:
2576:
2574:
2571:
2569:
2566:
2564:
2561:
2559:
2556:
2554:
2551:
2549:
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2545:
2543:
2541:
2535:
2523:
2520:
2519:
2518:
2515:
2513:
2510:
2508:
2505:
2503:
2500:
2496:
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2492:
2491:
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2445:
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2438:
2437:
2436:
2433:
2431:
2428:
2426:
2423:
2421:
2420:Oral medicine
2418:
2416:
2415:Ophthalmology
2413:
2411:
2408:
2404:
2401:
2400:
2399:
2396:
2394:
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2326:
2323:
2321:
2318:
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2311:
2308:
2306:
2303:
2302:
2300:
2296:
2288:
2285:
2283:
2280:
2278:
2277:Cytopathology
2275:
2273:
2270:
2268:
2265:
2263:
2260:
2259:
2258:
2255:
2251:
2248:
2246:
2243:
2241:
2238:
2237:
2236:
2233:
2232:
2230:
2228:
2224:
2218:
2217:Urogynecology
2215:
2213:
2210:
2208:
2205:
2203:
2200:
2198:
2195:
2193:
2190:
2189:
2187:
2185:
2179:
2173:
2170:
2168:
2165:
2163:
2160:
2158:
2155:
2153:
2150:
2148:
2145:
2143:
2140:
2138:
2135:
2131:
2128:
2127:
2126:
2123:
2121:
2120:Endocrinology
2118:
2116:
2113:
2111:
2108:
2106:
2102:
2099:
2098:
2096:
2094:
2088:
2082:
2079:
2075:
2072:
2071:
2070:
2067:
2065:
2062:
2060:
2057:
2055:
2052:
2050:
2047:
2045:
2042:
2040:
2037:
2030:
2029:
2028:
2025:
2023:
2020:
2018:
2015:
2013:
2010:
2008:
2005:
2001:
1998:
1996:
1993:
1992:
1991:
1988:
1986:
1983:
1981:
1978:
1976:
1973:
1971:
1968:
1967:
1965:
1963:
1959:
1956:
1954:
1948:
1944:
1940:
1933:
1928:
1926:
1921:
1919:
1914:
1913:
1910:
1894:
1891:
1889:
1886:
1885:
1883:
1879:
1871:
1868:
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1810:
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1807:
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1764:
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1759:
1756:
1754:
1751:
1749:
1745:
1744:
1742:
1740:
1736:
1730:
1726:
1725:Brody disease
1723:
1721:
1716:
1715:
1712:
1702:
1699:
1698:
1696:
1692:
1686:
1683:
1679:
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1674:
1671:
1670:
1668:
1666:
1662:
1657:
1654:
1650:
1647:
1646:
1645:
1644:Neuromyotonia
1642:
1638:
1635:
1633:
1630:
1629:
1628:
1625:
1623:
1621:
1617:
1614:
1610:(ion channel)
1609:
1608:
1607:
1606:Channelopathy
1603:
1595:
1592:
1590:
1587:
1586:
1585:
1584:
1580:
1576:
1573:
1572:
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1479:
1477:
1474:
1472:
1469:
1468:
1467:
1464:
1462:
1459:
1457:
1456:Calpainopathy
1454:
1453:
1451:
1449:
1445:
1439:
1438:Distal (most)
1436:
1434:
1431:
1429:
1426:
1424:
1421:
1419:
1416:
1415:
1413:
1411:
1407:
1404:
1401:
1396:
1392:
1389:
1387:
1383:
1377:
1374:
1370:
1369:Neuromyotonia
1367:
1365:
1362:
1360:
1357:
1356:
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1223:
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1202:
1199:
1196:
1193:
1192:
1190:
1186:
1180:
1177:
1175:
1172:
1168:
1167:Calpainopathy
1165:
1164:
1163:
1160:
1158:
1155:
1153:
1150:
1148:
1145:
1141:
1138:
1136:
1133:
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1128:
1126:
1123:
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1120:
1116:
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1074:
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1040:
1036:
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1031:
1030:
1027:
1023:
1016:
1012:
1011:
1007:
1004:
1003:
999:
995:
994:
991:
986:
982:
975:
971:
970:Rare Diseases
968:'s Office of
967:
963:
960:
955:
950:
945:
940:
936:
932:
928:
923:
919:
915:
910:
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888:
887:
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874:
868:
864:
857:
854:
849:
845:
841:
837:
833:
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825:
821:
813:
810:
797:
790:
788:
784:
778:
773:
769:
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755:
751:
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743:
736:
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724:
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714:
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684:
679:
675:
671:
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663:
659:
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531:
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467:
463:
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448:
446:
444:
442:
440:
438:
434:
423:
422:www.orpha.net
419:
413:
411:
409:
405:
398:
394:
391:
390:
386:
384:
382:
378:
369:
367:
365:
364:beta blockers
361:
356:
348:
343:
339:
337:
333:
330:
327:
324:
323:
319:
315:
312:
308:
300:
298:
296:
293:(as well as,
292:
287:
283:
279:
275:
266:
259:
257:
253:
251:
247:
242:
240:
236:
233:
229:
226:
217:
210:
208:
206:
202:
201:lissencephaly
193:
190:
187:
184:
181:
178:
176:
173:
172:
171:
168:
160:
158:
156:
152:
148:
144:
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132:
128:
123:
121:
117:
113:
109:
106:
102:
93:
89:
85:
83:
79:
75:
71:
67:
65:
61:
58:
53:
49:
44:
40:
36:
31:
19:
2636:Rural health
2621:Nanomedicine
2172:Rheumatology
2103: /
2022:Hand surgery
2007:Neurosurgery
1824:Hyperthyroid
1685:Hyperkalemic
1581:
1567:
1561:X-linked MTM
1553:
1539:
1500:
1470:
1351:
1322:Diseases of
1246:Grøn Koncert
1069:
1068:
1067:profile for
1064:
1032:
1008:
996:
934:
930:
899:
895:
862:
856:
823:
819:
812:
800:. Retrieved
749:
745:
735:
700:
696:
686:
653:
649:
639:
628:. Retrieved
624:
615:
600:
579:
572:
555:
551:
545:
514:. Retrieved
510:
487:. Retrieved
457:GeneReviews®
456:
425:. Retrieved
421:
373:
354:
352:
304:
281:
273:
271:
268:Protein DAG1
254:
243:
224:
222:
197:
192:Neurological
164:
150:
124:
100:
99:
2706:Wikiproject
2495:Venereology
2440:Neonatology
2337:Dermatology
2192:Gynaecology
2184:gynaecology
2167:Pulmonology
1985:Eye surgery
1947:Specialties
1806:Hypothyroid
1673:Hypokalemic
1555:PTP disease
802:30 November
703:(1): 9–13.
564:10005868969
103:is a rare,
57:inheritance
38:Other names
2741:Categories
2468:Psychiatry
2454:(PM&R)
2447:Phlebology
2435:Pediatrics
2262:Anatomical
2227:Diagnostic
2207:Obstetrics
2157:Nephrology
2142:Hematology
2137:Geriatrics
2130:Hepatology
2115:Cardiology
2105:Immunology
1717:(ion pump)
1678:Thyrotoxic
1594:Zaspopathy
1502:dystrophin
1466:Congenital
1353:autoimmune
1240:DĂ©crypthon
1125:Congenital
798:. Medscape
630:2016-05-24
595:Chapter 14
516:2016-05-24
489:2012-11-26
427:2016-05-11
399:References
381:swallowing
355:definitive
291:astrocytes
232:chromosome
2656:Physician
2540:education
2398:Neurology
2393:Narcology
2257:Pathology
2235:Radiology
2110:Angiology
2074:Andrology
1826:myopathy
1808:myopathy
1248:(Denmark)
1213:(Denmark)
937:(1): 22.
848:206315560
768:2044-5040
709:1128-2460
670:1434-5161
370:Prognosis
349:Treatment
301:Diagnosis
108:recessive
105:autosomal
91:Treatment
2686:Category
2162:Oncology
2093:medicine
2091:Internal
1939:Medicine
1620:Myotonia
1513:Duchenne
1508:Becker's
1471:Fukuyama
1433:Myotonic
1386:Myopathy
1281:Category
1242:(France)
1174:Myotonic
1140:Duchenne
1135:Becker's
1034:Orphanet
840:26363734
727:19108571
678:28680109
607:(OMIM):
537:(OMIM):
466:20301385
387:See also
331:analysis
329:Deletion
307:biopsies
246:autosome
194:problems
175:Seizures
110:form of
68:Seizures
64:Symptoms
2726:Outline
2696:Commons
2641:Therapy
2538:Medical
2101:Allergy
2069:Urology
1962:Surgery
1881:General
1746:Muscle
1476:Ullrich
1061:Scholia
1005:: G71.2
954:3156645
918:8730178
909:8337276
777:3156645
718:2859607
558:: 5–8.
295:neurons
286:fukutin
239:fukutin
183:Cardiac
147:fukutin
135:muscles
2716:Portal
2583:MD–PhD
1729:ATP2A1
1330:, and
1324:muscle
1147:Distal
1063:has a
1015:253800
951:
916:
906:
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846:
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766:
752:: 22.
725:
715:
707:
676:
668:
609:607440
587:
562:
539:253800
464:
377:mental
344:region
342:coding
185:issues
133:, and
73:Causes
2298:Other
1787:MNGIE
1772:MERRF
1767:MELAS
1694:Other
1118:Types
1065:topic
844:S2CID
336:exons
250:carry
219:CHR 9
211:Cause
149:(the
127:brain
116:Japan
1400:DAPC
1230:(US)
1197:(US)
1010:OMIM
914:PMID
867:ISBN
836:PMID
804:2012
764:ISSN
723:PMID
705:ISSN
674:PMID
666:ISSN
585:ISBN
560:NAID
462:PMID
362:and
282:FKTN
274:FKTN
235:9q31
228:gene
225:FKTN
151:FCMD
143:gene
131:eyes
18:FCMD
2032:ENT
1950:and
1782:PEO
1777:KSS
1039:272
998:ICD
966:NIH
964:at
949:PMC
939:doi
904:PMC
828:doi
772:PMC
754:doi
713:PMC
658:doi
2743::
2371:/
1493:XR
1448:AR
1410:AD
1326:,
1037::
1013::
1002:10
947:.
933:.
929:.
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900:17
898:.
894:.
842:.
834:.
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822:.
786:^
770:.
762:.
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744:.
721:.
711:.
701:27
699:.
695:.
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664:.
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652:.
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850:.
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780:.
756::
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680:.
660::
633:.
593:.
566:.
556:4
519:.
492:.
468:.
430:.
20:)
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
