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 Type 4A

OMIM:214400
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the nervous system


Mutations

Gene SymbolGDAP1
Reference transcriptNM_018972.2
DNA Changec.233C>T
A.A. Changep.Pro78Leu
Exon/Intronexon 2
Mutation Typesubstitution
ReferenceBouhouche A, Birouk N, Benomar A, Ouazzani R, Chkili T, Yahyaoui M.A novel GDAP1 mutation P78L responsible for CMT4A disease in three Moroccan families.
Can J Neurol Sci. 2007 Nov;34(4):421-6.

Gene SymbolGDAP1
Reference transcriptNM_018972.2
DNA Changec.929G>A
A.A. Changep.Arg310Gln
Exon/Intronexon 6
Mutation Typesubstitution
ReferenceAzzedine H, Ruberg M, Ente D, Gilardeau C, Perie S, Wechsler B, Brice A, LeGuern E, Dubourg O.Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.
Neuromuscul Disord. 2003 May;13(4):341-6.

Gene SymbolGDAP1
Reference transcriptNM_018972.2
DNA Changec.581C>G
A.A. Changep.Ser194X
Exon/Intronexon 5
Mutation Typesubstitution
ReferenceAzzedine H, Ruberg M, Ente D, Gilardeau C, Perie S, Wechsler B, Brice A, LeGuern E, Dubourg O.Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.
Neuromuscul Disord. 2003 May;13(4):341-6.