40:
65:
145:
47:
Histopathologic appearance of typical central core disease: NADH-TR, transverse section from the rectus femoris. Marked predominance of dark staining, high oxidative type 1 fibres with cores affecting the majority of fibres. Cores are typically well demarcated and centrally located (→), but may
581:
566:
692:
423:
1165:
685:
2289:
1479:
1982:
1136:
441:
Talwalkar, SS; Parker, JR; Heffner, RR; Parker, JC (2006). "Adult central core disease. Clinical, histologic and genetic aspects: case report and review of the literature".
678:
2174:
1551:
1527:
1402:
39:
1160:
2227:
1484:
1190:
2213:
1308:
1993:
1890:
849:
806:
898:
742:
2294:
854:
778:
2160:
2080:
1943:
428:
272:"RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes"
596:
2095:
1844:
1783:
947:
801:
1878:
1334:
1642:
1637:
2141:
2146:
1726:
1570:
1063:
2254:
2208:
1769:
1565:
1416:
1131:
1051:
839:
796:
754:
722:
718:
886:
468:
2130:
2054:
1957:
1580:
1421:
1359:
1243:
1056:
844:
1864:
1755:
1522:
1349:
939:
933:
670:
1919:
859:
136:
CCD is usually diagnosed in infancy or childhood, but some patients remain asymptomatic until adulthood to middle age.
2136:
1301:
891:
2184:
1155:
1654:
816:
1849:
1126:
607:
270:
Robinson, Rl; Brooks, C; Brown, Sl; Ellis, Fr; Halsall, Pj; Quinnell, Rj; Shaw, Ma; Hopkins, Pm (August 2002).
1701:
1238:
230:
1575:
1460:
1294:
1141:
1034:
953:
706:
388:
240:
176:
2269:
2109:
1266:
710:
658:
492:
Messina, S.; Hartley, L.; Main, M.; Kinali, M.; Jungbluth, H.; Muntoni, F.; Mercuri, E. (October 2004).
1675:
235:
160:
86:
393:
1271:
1248:
1220:
1208:
826:
585:
210:
90:
64:
2189:
2179:
2012:
1215:
1117:
1043:
1005:
871:
811:
788:
773:
529:
301:
180:
164:
130:
97:. It was first described by Shy and Magee in 1956. It is characterized by the appearance of the
2026:
1929:
1854:
1830:
1717:
1195:
1176:
967:
737:
521:
513:
450:
406:
361:
293:
118:
53:
2068:
1973:
1924:
1905:
1859:
1816:
1802:
1788:
1613:
1608:
1594:
1546:
1435:
1383:
1378:
1373:
1225:
925:
919:
505:
398:
351:
343:
283:
218:
196:
195:(tissue sample) from muscle. The name derives from the typical appearance of the biopsy on
2239:
2007:
1988:
1741:
1632:
1627:
1532:
1397:
1354:
1325:
1027:
1010:
214:
94:
191:
The diagnosis is made based on the combination of typical symptoms and the appearance on
144:
1500:
1150:
1145:
1103:
1015:
356:
331:
122:
590:
2283:
2040:
1317:
1022:
984:
834:
747:
533:
200:
305:
2048:
1202:
961:
636:
612:
2248:
1184:
642:
149:
972:
880:
731:
647:
575:
247:
102:
517:
402:
631:
493:
157:
126:
114:
98:
58:
1286:
525:
454:
410:
365:
347:
297:
246:
Research has shown that some patients may benefit from treatment with oral
509:
221:(EMG) shows short duration, short amplitude motor unit action potentials.
2121:
998:
764:
653:
175:(newly developed). People with CCD are at increased risk for developing
494:"Pilot trial of salbutamol in central core and multi-minicore diseases"
288:
271:
558:
379:
Magee KR, Shy GM (1956). "A new congenital non-progressive myopathy".
2103:
2062:
1951:
1937:
1695:
1689:
1683:
1669:
1663:
1429:
1410:
1391:
1367:
1343:
1107:
702:
570:
204:
192:
332:"Central core disease: clinical, pathological, and genetic features"
2089:
2034:
2020:
2001:
1913:
1872:
1838:
1824:
1810:
1796:
1777:
1763:
1749:
1735:
1621:
1602:
1588:
1559:
1540:
1516:
143:
229:
There is no specific treatment for central core disease. Certain
2221:
2202:
2198:
2168:
2154:
1899:
1473:
1454:
601:
1290:
674:
148:
Central core disease has an autosomal dominant pattern of
199:, where the muscle cells have cores that are devoid of
163:
fashion. Most cases have demonstrable mutations in the
330:
Quinlivan RM, Muller CR, Davis M, et al. (2003).
233:
must be avoided, and relatives should be screened for
113:
The symptoms of CCD are variable, but usually involve
548:
2238:
2120:
2079:
1972:
1889:
1725:
1716:
1653:
1508:
1499:
1446:
1333:
1324:
1259:
1175:
1116:
1092:
1072:
1042:
997:
983:
911:
870:
825:
787:
772:
763:
717:
622:
552:
52:
48:
occasionally be multiple and of eccentric location.
29:
24:
121:(highly variable between cases), weakness of the
117:(decreased muscle tone) at birth, mild delay in
469:"Use of Salbutamol in Neuromuscular conditions"
93:present from birth that negatively affects the
2290:Myoneural junction and neuromuscular diseases
1302:
686:
8:
325:
323:
321:
319:
317:
315:
1722:
1505:
1330:
1309:
1295:
1287:
994:
784:
769:
693:
679:
671:
549:
63:
38:
21:
2214:Progressive symmetric erythrokeratodermia
392:
355:
287:
213:develops in a small proportion of cases.
2228:Clouston's hidrotic ectodermal dysplasia
156:Central core disease is inherited in an
259:
2175:Keratitis–ichthyosis–deafness syndrome
1994:Congenital absence of the vas deferens
265:
263:
125:, and skeletal malformations such as
7:
16:Autosomal dominant genetic disorder
1845:Jervell and Lange-Nielsen syndrome
1784:Jervell and Lange-Nielsen syndrome
954:BIN1-linked centronuclear myopathy
14:
1235:Testosterone deficiency myopathy
743:Lambert–Eaton myasthenic syndrome
2255:Nephrogenic diabetes insipidus 2
1643:Congenital insensitivity to pain
1638:Paroxysmal extreme pain disorder
1566:Hypokalemic periodic paralysis 2
1417:Hypokalemic periodic paralysis 1
1191:Kocher–Debre–Semelaigne syndrome
840:Limb-girdle muscular dystrophy 2
797:Limb-girdle muscular dystrophy 1
2147:Hypoplastic left heart syndrome
1958:Thyrotoxic periodic paralysis 2
1571:Hyperkalemic periodic paralysis
1422:Thyrotoxic periodic paralysis 1
2209:Erythrokeratodermia variabilis
2161:Charcot–Marie–Tooth disease X1
1865:Familial atrial fibrillation 3
1770:Spinocerebellar ataxia type-13
1756:Familial atrial fibrillation 7
1523:Familial hemiplegic migraine 3
1350:Familial hemiplegic migraine 1
1132:Fatty-acid metabolism disorder
755:Congenital myasthenic syndrome
473:Cambridge University Hospitals
1:
2055:Vitelliform macular dystrophy
1581:Potassium-aggravated myotonia
1360:Spinocerebellar ataxia type-6
1244:Hypogonadotropic hypogonadism
2295:Autosomal dominant disorders
429:Dorland's Medical Dictionary
2142:Hallermann–Streiff syndrome
2137:Oculodentodigital dysplasia
1702:Pseudohypoaldosteronism 1AR
2311:
2265:
1221:Hyperparathyroid myopathy
211:Respiratory insufficiency
165:ryanodine receptor type 1
46:
37:
1318:Diseases of ion channels
1216:Hypoparathyroid myopathy
1127:Glycogen storage disease
171:) gene, which are often
1920:Andersen–Tawil syndrome
1239:Late-onset hypogonadism
1230:Corticosteroid myopathy
948:adaptor protein disease
2185:Bart–Pumphrey syndrome
1576:Paramyotonia congenita
1461:Malignant hyperthermia
1142:Mitochondrial myopathy
1035:Paramyotonia congenita
707:neuromuscular junction
424:"central core disease"
403:10.1093/brain/79.4.610
348:10.1136/adc.88.12.1051
241:malignant hyperthermia
231:triggering anesthetics
217:tend to be normal and
177:malignant hyperthermia
153:
2110:Mucolipidosis type IV
1655:Constitutively active
1267:Inflammatory myopathy
711:neuromuscular disease
510:10.1055/s-2004-821173
239:mutations that cause
147:
83:central core myopathy
33:Central core myopathy
2041:Osteopetrosis A2, B4
1850:Romano–Ward syndrome
1466:Central core disease
1080:Central core disease
962:cytoskeleton disease
179:(MH) when receiving
75:Central core disease
25:Central Core Disease
1595:Long QT syndrome 10
1272:Congenital myopathy
1249:Androgen deficiency
1209:Thyrotoxic myopathy
807:Facioscapulohumeral
2190:Vohwinkel syndrome
2180:Ichthyosis hystrix
2069:Bartter syndrome 3
2013:Myotonia congenita
1925:Long QT syndrome 7
1906:Bartter syndrome 2
1860:Long QT syndrome 1
1817:Brugada syndrome 5
1803:Long QT syndrome 6
1789:Long QT syndrome 5
1633:Febrile seizure 3B
1614:Long QT syndrome 3
1609:Brugada syndrome 1
1547:Brugada syndrome 6
1533:Febrile seizure 3A
1436:Brugada syndrome 4
1384:Long QT syndrome 8
1379:Brugada syndrome 3
1118:Metabolic myopathy
1044:Periodic paralysis
1006:Myotonia congenita
774:Muscular dystrophy
623:External resources
289:10.1002/humu.10098
181:general anesthesia
154:
109:Signs and symptoms
87:autosomal dominant
2277:
2276:
1968:
1967:
1930:Short QT syndrome
1855:Short QT syndrome
1831:Short QT syndrome
1742:Episodic ataxia 1
1718:Potassium channel
1712:
1711:
1676:Liddle's syndrome
1495:
1494:
1398:Ocular albinism 2
1355:Episodic ataxia 2
1284:
1283:
1280:
1279:
1196:Hoffmann syndrome
1088:
1087:
968:Nemaline myopathy
907:
906:
738:Myasthenia gravis
668:
667:
119:child development
81:), also known as
72:
71:
19:Medical condition
2302:
1974:Chloride channel
1891:Inward-rectifier
1723:
1506:
1374:Timothy syndrome
1331:
1311:
1304:
1297:
1288:
1226:Hypercortisolism
1137:AMPD1 deficiency
1093:ATPase disorder
995:
926:Bethlem myopathy
920:collagen disease
912:Other structural
785:
770:
723:junction disease
695:
688:
681:
672:
550:
538:
537:
489:
483:
482:
480:
479:
465:
459:
458:
443:Clin Neuropathol
438:
432:
421:
415:
414:
396:
376:
370:
369:
359:
336:Arch. Dis. Child
327:
310:
309:
291:
267:
219:electromyography
197:light microscopy
95:skeletal muscles
68:
67:
42:
22:
2310:
2309:
2305:
2304:
2303:
2301:
2300:
2299:
2280:
2279:
2278:
2273:
2261:
2234:
2116:
2075:
2008:Thomsen disease
1989:Cystic fibrosis
1964:
1885:
1708:
1649:
1628:Erythromelalgia
1491:
1442:
1326:Calcium channel
1320:
1315:
1285:
1276:
1255:
1171:
1112:
1084:
1068:
1038:
1028:Isaacs syndrome
1011:Thomsen disease
979:
903:
866:
821:
802:Oculopharyngeal
776:
759:
721:
713:
699:
669:
664:
663:
618:
617:
561:
547:
542:
541:
498:Neuropediatrics
491:
490:
486:
477:
475:
467:
466:
462:
440:
439:
435:
422:
418:
394:10.1.1.1026.496
378:
377:
373:
329:
328:
313:
269:
268:
261:
256:
227:
215:Creatine kinase
189:
142:
140:Pathophysiology
131:hip dislocation
111:
91:muscle disorder
62:
20:
17:
12:
11:
5:
2308:
2306:
2298:
2297:
2292:
2282:
2281:
2275:
2274:
2266:
2263:
2262:
2260:
2259:
2258:
2257:
2244:
2242:
2236:
2235:
2233:
2232:
2231:
2230:
2218:
2217:
2216:
2211:
2195:
2194:
2193:
2187:
2182:
2177:
2165:
2164:
2163:
2151:
2150:
2149:
2144:
2139:
2126:
2124:
2118:
2117:
2115:
2114:
2113:
2112:
2100:
2099:
2098:
2085:
2083:
2077:
2076:
2074:
2073:
2072:
2071:
2059:
2058:
2057:
2045:
2044:
2043:
2031:
2030:
2029:
2027:Dent's disease
2017:
2016:
2015:
2010:
1998:
1997:
1996:
1991:
1978:
1976:
1970:
1969:
1966:
1965:
1963:
1962:
1961:
1960:
1948:
1947:
1946:
1934:
1933:
1932:
1927:
1922:
1910:
1909:
1908:
1895:
1893:
1887:
1886:
1884:
1883:
1882:
1881:
1869:
1868:
1867:
1862:
1857:
1852:
1847:
1835:
1834:
1833:
1821:
1820:
1819:
1807:
1806:
1805:
1793:
1792:
1791:
1786:
1774:
1773:
1772:
1760:
1759:
1758:
1746:
1745:
1744:
1731:
1729:
1720:
1714:
1713:
1710:
1709:
1707:
1706:
1705:
1704:
1680:
1679:
1678:
1659:
1657:
1651:
1650:
1648:
1647:
1646:
1645:
1640:
1635:
1630:
1618:
1617:
1616:
1611:
1599:
1598:
1597:
1585:
1584:
1583:
1578:
1573:
1568:
1556:
1555:
1554:
1549:
1537:
1536:
1535:
1530:
1525:
1512:
1510:
1503:
1501:Sodium channel
1497:
1496:
1493:
1492:
1490:
1489:
1488:
1487:
1482:
1470:
1469:
1468:
1463:
1450:
1448:
1444:
1443:
1441:
1440:
1439:
1438:
1426:
1425:
1424:
1419:
1407:
1406:
1405:
1400:
1388:
1387:
1386:
1381:
1376:
1364:
1363:
1362:
1357:
1352:
1339:
1337:
1328:
1322:
1321:
1316:
1314:
1313:
1306:
1299:
1291:
1282:
1281:
1278:
1277:
1275:
1274:
1269:
1263:
1261:
1257:
1256:
1254:
1253:
1252:
1251:
1246:
1241:
1233:
1232:
1231:
1223:
1218:
1213:
1212:
1211:
1200:
1199:
1198:
1193:
1181:
1179:
1177:Endocrinopathy
1173:
1172:
1170:
1169:
1163:
1158:
1153:
1148:
1139:
1134:
1129:
1122:
1120:
1114:
1113:
1111:
1101:
1099:
1098:
1097:
1090:
1089:
1086:
1085:
1083:
1082:
1076:
1074:
1070:
1069:
1067:
1066:
1061:
1060:
1059:
1048:
1046:
1040:
1039:
1037:
1032:
1031:
1030:
1020:
1019:
1018:
1016:Becker disease
1013:
1003:
1001:
992:
991:
990:
981:
980:
978:
977:
976:
975:
970:
958:
957:
956:
944:
943:
942:
930:
929:
928:
915:
913:
909:
908:
905:
904:
902:
901:
899:Emery–Dreifuss
896:
895:
894:
889:
876:
874:
868:
867:
865:
864:
863:
862:
860:Walker–Warburg
857:
852:
842:
837:
831:
829:
823:
822:
820:
819:
814:
809:
804:
799:
793:
791:
782:
767:
761:
760:
758:
757:
752:
751:
750:
745:
740:
727:
725:
719:Neuromuscular-
715:
714:
700:
698:
697:
690:
683:
675:
666:
665:
662:
661:
650:
639:
627:
626:
624:
620:
619:
616:
615:
604:
593:
578:
562:
557:
556:
554:
553:Classification
546:
545:External links
543:
540:
539:
504:(5): 262–266.
484:
460:
433:
416:
371:
342:(12): 1051–5.
311:
276:Human Mutation
258:
257:
255:
252:
226:
223:
188:
185:
141:
138:
123:facial muscles
110:
107:
70:
69:
56:
50:
49:
44:
43:
35:
34:
31:
27:
26:
18:
15:
13:
10:
9:
6:
4:
3:
2:
2307:
2296:
2293:
2291:
2288:
2287:
2285:
2272:
2271:
2264:
2256:
2253:
2252:
2251:
2250:
2246:
2245:
2243:
2241:
2237:
2229:
2226:
2225:
2224:
2223:
2219:
2215:
2212:
2210:
2207:
2206:
2205:
2204:
2200:
2196:
2191:
2188:
2186:
2183:
2181:
2178:
2176:
2173:
2172:
2171:
2170:
2166:
2162:
2159:
2158:
2157:
2156:
2152:
2148:
2145:
2143:
2140:
2138:
2135:
2134:
2133:
2132:
2128:
2127:
2125:
2123:
2119:
2111:
2108:
2107:
2106:
2105:
2101:
2097:
2094:
2093:
2092:
2091:
2087:
2086:
2084:
2082:
2078:
2070:
2067:
2066:
2065:
2064:
2060:
2056:
2053:
2052:
2051:
2050:
2046:
2042:
2039:
2038:
2037:
2036:
2032:
2028:
2025:
2024:
2023:
2022:
2018:
2014:
2011:
2009:
2006:
2005:
2004:
2003:
1999:
1995:
1992:
1990:
1987:
1986:
1985:
1984:
1980:
1979:
1977:
1975:
1971:
1959:
1956:
1955:
1954:
1953:
1949:
1945:
1942:
1941:
1940:
1939:
1935:
1931:
1928:
1926:
1923:
1921:
1918:
1917:
1916:
1915:
1911:
1907:
1904:
1903:
1902:
1901:
1897:
1896:
1894:
1892:
1888:
1880:
1877:
1876:
1875:
1874:
1870:
1866:
1863:
1861:
1858:
1856:
1853:
1851:
1848:
1846:
1843:
1842:
1841:
1840:
1836:
1832:
1829:
1828:
1827:
1826:
1822:
1818:
1815:
1814:
1813:
1812:
1808:
1804:
1801:
1800:
1799:
1798:
1794:
1790:
1787:
1785:
1782:
1781:
1780:
1779:
1775:
1771:
1768:
1767:
1766:
1765:
1761:
1757:
1754:
1753:
1752:
1751:
1747:
1743:
1740:
1739:
1738:
1737:
1733:
1732:
1730:
1728:
1727:Voltage-gated
1724:
1721:
1719:
1715:
1703:
1700:
1699:
1698:
1697:
1692:
1691:
1686:
1685:
1681:
1677:
1674:
1673:
1672:
1671:
1666:
1665:
1661:
1660:
1658:
1656:
1652:
1644:
1641:
1639:
1636:
1634:
1631:
1629:
1626:
1625:
1624:
1623:
1619:
1615:
1612:
1610:
1607:
1606:
1605:
1604:
1600:
1596:
1593:
1592:
1591:
1590:
1586:
1582:
1579:
1577:
1574:
1572:
1569:
1567:
1564:
1563:
1562:
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1557:
1553:
1550:
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1545:
1544:
1543:
1542:
1538:
1534:
1531:
1529:
1526:
1524:
1521:
1520:
1519:
1518:
1514:
1513:
1511:
1509:Voltage-gated
1507:
1504:
1502:
1498:
1486:
1483:
1481:
1478:
1477:
1476:
1475:
1471:
1467:
1464:
1462:
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1437:
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1377:
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1371:
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1361:
1358:
1356:
1353:
1351:
1348:
1347:
1346:
1345:
1341:
1340:
1338:
1336:
1335:Voltage-gated
1332:
1329:
1327:
1323:
1319:
1312:
1307:
1305:
1300:
1298:
1293:
1292:
1289:
1273:
1270:
1268:
1265:
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1258:
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1234:
1229:
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1219:
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1207:
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1197:
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1189:
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1174:
1167:
1164:
1162:
1159:
1157:
1154:
1152:
1149:
1147:
1143:
1140:
1138:
1135:
1133:
1130:
1128:
1124:
1123:
1121:
1119:
1115:
1109:
1105:
1104:Brody disease
1102:
1100:
1095:
1094:
1091:
1081:
1078:
1077:
1075:
1071:
1065:
1062:
1058:
1055:
1054:
1053:
1050:
1049:
1047:
1045:
1041:
1036:
1033:
1029:
1026:
1025:
1024:
1023:Neuromyotonia
1021:
1017:
1014:
1012:
1009:
1008:
1007:
1004:
1002:
1000:
996:
993:
989:(ion channel)
988:
987:
986:
985:Channelopathy
982:
974:
971:
969:
966:
965:
964:
963:
959:
955:
952:
951:
950:
949:
945:
941:
938:
937:
936:
935:
931:
927:
924:
923:
922:
921:
917:
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914:
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897:
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890:
888:
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883:
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878:
877:
875:
873:
869:
861:
858:
856:
853:
851:
848:
847:
846:
843:
841:
838:
836:
835:Calpainopathy
833:
832:
830:
828:
824:
818:
817:Distal (most)
815:
813:
810:
808:
805:
803:
800:
798:
795:
794:
792:
790:
786:
783:
780:
775:
771:
768:
766:
762:
756:
753:
749:
748:Neuromyotonia
746:
744:
741:
739:
736:
735:
734:
733:
729:
728:
726:
724:
720:
716:
712:
708:
704:
696:
691:
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684:
682:
677:
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660:
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633:
629:
628:
625:
621:
614:
610:
609:
605:
603:
599:
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594:
592:
588:
587:
583:
579:
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573:
572:
568:
564:
563:
560:
555:
551:
544:
535:
531:
527:
523:
519:
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511:
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488:
485:
474:
470:
464:
461:
456:
452:
448:
444:
437:
434:
431:
430:
425:
420:
417:
412:
408:
404:
400:
395:
390:
387:(4): 610–21.
386:
382:
375:
372:
367:
363:
358:
353:
349:
345:
341:
337:
333:
326:
324:
322:
320:
318:
316:
312:
307:
303:
299:
295:
290:
285:
281:
277:
273:
266:
264:
260:
253:
251:
249:
244:
242:
238:
237:
232:
224:
222:
220:
216:
212:
208:
206:
203:and specific
202:
198:
194:
186:
184:
182:
178:
174:
170:
166:
162:
159:
151:
146:
139:
137:
134:
132:
128:
124:
120:
116:
108:
106:
104:
100:
96:
92:
88:
84:
80:
76:
66:
60:
57:
55:
51:
45:
41:
36:
32:
28:
23:
2270:ion channels
2267:
2247:
2220:
2197:
2167:
2153:
2129:
2102:
2088:
2061:
2047:
2033:
2019:
2000:
1981:
1950:
1936:
1912:
1898:
1871:
1837:
1823:
1809:
1795:
1776:
1762:
1748:
1734:
1694:
1688:
1682:
1668:
1662:
1620:
1601:
1587:
1558:
1539:
1515:
1472:
1465:
1453:
1447:Ligand gated
1428:
1409:
1390:
1366:
1342:
1203:Hyperthyroid
1079:
1064:Hyperkalemic
960:
946:
940:X-linked MTM
932:
918:
879:
730:
701:Diseases of
652:
641:
630:
606:
595:
580:
565:
501:
497:
487:
476:. Retrieved
472:
463:
449:(4): 180–4.
446:
442:
436:
427:
419:
384:
380:
374:
339:
335:
282:(2): 88–97.
279:
275:
245:
234:
228:
209:
201:mitochondria
190:
172:
168:
155:
135:
112:
82:
78:
74:
73:
2081:TRP channel
1185:Hypothyroid
1052:Hypokalemic
934:PTP disease
643:GeneReviews
150:inheritance
30:Other names
2284:Categories
2268:See also:
1096:(ion pump)
1057:Thyrotoxic
973:Zaspopathy
881:dystrophin
845:Congenital
732:autoimmune
478:2023-08-26
254:References
248:salbutamol
103:microscope
101:under the
89:inherited
1205:myopathy
1187:myopathy
632:eMedicine
534:260238342
518:0174-304X
389:CiteSeerX
225:Treatment
187:Diagnosis
158:autosomal
127:scoliosis
115:hypotonia
99:myofibril
59:Neurology
54:Specialty
2122:Connexin
999:Myotonia
892:Duchenne
887:Becker's
850:Fukuyama
812:Myotonic
765:Myopathy
654:Orphanet
637:neuro/76
526:15534757
455:16866299
411:13396066
366:14670767
306:21497303
298:12124989
161:dominant
85:, is an
1552:GEFS+ 1
1528:GEFS+ 2
1411:CACNA1S
1392:CACNA1F
1368:CACNA1C
1344:CACNA1A
1260:General
1125:Muscle
855:Ullrich
648:NBK1391
613:D020512
357:1719384
205:enzymes
173:de novo
2104:TRPML1
2063:CLCNKB
1952:KCNJ18
1938:KCNJ11
1696:SCNN1G
1690:SCNN1B
1684:SCNN1A
1670:SCNN1G
1664:SCNN1B
1430:CACNB2
1403:CSNB2A
1108:ATP2A1
709:, and
703:muscle
602:117000
532:
524:
516:
453:
409:
391:
364:
354:
304:
296:
193:biopsy
61:
2240:Porin
2096:FSGS2
2090:TRPC6
2049:BEST1
2035:CLCN7
2021:CLCN5
2002:CLCN1
1944:TNDM3
1914:KCNJ2
1900:KCNJ1
1879:BFNS1
1873:KCNQ2
1839:KCNQ1
1825:KCNH2
1811:KCNE3
1797:KCNE2
1778:KCNE1
1764:KCNC3
1750:KCNA5
1736:KCNA1
1622:SCN9A
1603:SCN5A
1589:SCN4B
1560:SCN4A
1541:SCN1B
1517:SCN1A
1485:ARVD2
1480:CPVT1
1166:MNGIE
1151:MERRF
1146:MELAS
1073:Other
591:359.0
576:G71.2
530:S2CID
381:Brain
302:S2CID
2249:AQP2
2222:GJB6
2203:GJB4
2199:GJB3
2169:GJB2
2155:GJB1
2131:GJA1
1983:CFTR
1474:RYR2
1455:RYR1
779:DAPC
608:MeSH
597:OMIM
586:9-CM
522:PMID
514:ISSN
451:PMID
407:PMID
362:PMID
294:PMID
236:RYR1
169:RYR1
129:and
1161:PEO
1156:KSS
659:597
582:ICD
567:ICD
506:doi
426:at
399:doi
352:PMC
344:doi
284:doi
79:CCD
2286::
872:XR
827:AR
789:AD
705:,
657::
646::
635::
611::
600::
589::
574::
571:10
528:.
520:.
512:.
502:35
500:.
496:.
471:.
447:25
445:.
405:.
397:.
385:79
383:.
360:.
350:.
340:88
338:.
334:.
314:^
300:.
292:.
280:20
278:.
274:.
262:^
250:.
243:.
207:.
183:.
133:.
105:.
2201:/
2192:)
1693:/
1687:/
1667:/
1310:e
1303:t
1296:v
1168:)
1144:(
1110:)
1106:(
781:)
777:(
694:e
687:t
680:v
584:-
569:-
559:D
536:.
508::
481:.
457:.
413:.
401::
368:.
346::
308:.
286::
167:(
152:.
77:(
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