Article
A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family.
Clinical genetics - 1 Sept 2008
Xin B, Puffenberger E, Nye L, Wiznitzer M, Wang H
Abstract excerpt
Charcot-Marie-Tooth disease (CMT) constitutes a large group of genetically heterogeneous disorders of the peripheral nervous system. Autosomal recessive forms of CMT are less common in the general population but account for the vast majority of CMT phenotypes in communities with a high prevalence of consanguinity. At least 10 genetic loci cause autosomal recessive forms of CMT. Mutations in the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.