GDAP1
Pathology
germline mutations in GDAP1 gene coding for ganglioside-induced differentiation-associated protein 1
- Charcot-Marie-Tooth (CMT) type 4A is a severe autosomal recessive form of neuropathy associated with either demyelinating or axonal phenotypes.
References
Pedrola L, Espert A, Wu X, Claramunt R, Shy ME, Palau F. GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Hum Mol Genet. 2005 Apr 15;14(8):1087-94. Epub 2005 Mar 16. PMID: #15772096#