X-linked Charcot-Marie-Tooth disease with novel c.47A>T GJB1 gene mutation.
Vrancken
Alexander F J E
AF
Spliet
Wim G M
WG
van Ruissen
Fred
F
D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics* / Q000473:pathology; D004594:Electrophysiology; D005260:Female; D050172:Genes, X-Linked / Q000235:genetics*; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000209:etiology / Q000235:genetics / Q000473:pathology; D009154:Mutation / Q000502:physiology; D010146:Pain / Q000209:etiology; D010523:Peripheral Nervous System Diseases / Q000209:etiology; D055815:Young Adult