A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features.
Karadima
Georgia
G
Neurogenetics Unit, Department of Neurology, Athens National University, Eginition Hospital, 74 Vas. Sophias Av., 11528, Athens, Greece.
Panas
Marios
M
Floroskufi
Paraskewi
P
Kalfakis
Nikolaos
N
Vassilopoulos
Demetris
D
D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology*; D041321:Chromosomes, Human, X / Q000235:genetics; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000503:physiopathology*; D006319:Hearing Loss, Sensorineural / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D009431:Neural Conduction / Q000235:genetics; D010375:Pedigree; D010525:Peripheral Nerves / Q000473:pathology / Q000503:physiopathology; D017434:Protein Structure, Tertiary / Q000235:genetics; D014633:Valine / Q000235:genetics; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D014633:Valine; D000097002:Gap Junction beta-1 Protein