A V139M mutation also causes the reversible CNS phenotype in CMTX.
Halbrich
Michelle
M
Barnes
Jeffrey
J
Bunge
Martin
M
Joshi
Charuta
C
D000293:Adolescent; D019943:Amino Acid Substitution; D001921:Brain / Q000473:pathology*; D001927:Brain Diseases / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics* / Q000473:pathology; D041321:Chromosomes, Human, X / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000235:genetics / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D010641:Phenotype; D017354:Point Mutation; D012075:Remission, Spontaneous; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D000097002:Gap Junction beta-1 Protein