Article
The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.
Journal of medical genetics - 1 Oct 2010
Crimella C, Tonelli A, Airoldi G, Baschirotto C, D'Angelo M G, Bonato S, Losito L, Trabacca A, Bresolin N, Bassi M T
Abstract excerpt
BACKGROUND: Mutations in GDAP1 associate with demyelinating (CMT4A) and axonal (CMT2K) forms of CMT. While CMT4A shows recessive inheritance, CMT2K can present with either recessive (AR-CMT2K) or dominant segregation pattern (AD-CMT2K), the latter being characterised by milder phenotypes and later onset. The majority of the GDAP1 mutations are associated with CMT4A and AR-CMT2K, with only four heterozygous...
Topics
- Adolescent
- Adult
- Age of Onset
- Axons
- Charcot-Marie-Tooth Disease
- Child
- Child, Preschool
- DNA Mutational Analysis
- Electrophysiology
- Gene Deletion
- Genes, Dominant