Article
Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene.
Neuropediatrics - 1 Jun 2005
Kabzińska D, Kochański A, Drac H, Ryniewicz B, Rowińska-Marcińska K, Hausmanowa-Petrusewicz I
Abstract excerpt
A recessive demyelinating subtype of Charcot-Marie-Tooth disease called CMT4 is a heterogeneous group of disorders. A relatively frequent form of recessive CMT (CMT4 A) has been mapped to the chromosome 8 q21 and shown to be caused by mutations in the ganglioside-induced differentiation protein 1 (GDAP1) gene. Twenty mutations in the GDAP1 gene have been reported in patients suffering from the axonal and...
Topics
- Charcot-Marie-Tooth Disease
- Child
- Humans
- Male
- Median Nerve
- Mutation
- Nerve Tissue Proteins
- Neural Conduction
- Peroneal Nerve
- RNA Splice Sites
- Sural Nerve