Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Charcot-Marie-Tooth Disease, Axonal, Type 2B

OMIM:600882
Mode of inheritance:Autosomal dominant
Disease classification:Diseases of the nervous system


Mutations

Gene SymbolRAB7
Reference transcriptNM_004637.5
DNA Changec.471G>C
A.A. Changep.Lys157Asn
Exon/Intronexon 5
Mutation Typesubstitution
ReferenceMeggouh F, Bienfait HM, Weterman MA, de Visser M, Baas F.Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.
Neurology. 2006 Oct 24;67(8):1476-8.