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 2B1

OMIM:605588
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system


Mutations

Gene SymbolLMNA
Reference transcriptNM_170707.3
DNA Changec.892C>T
A.A. Changep.Arg298Cys
Exon/Intronexon 5
Mutation Typesubstitution
ReferenceBouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E.Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
Brain. 2007 Apr;130(Pt 4):1062-75.