Condition: Charcot-Marie-Tooth Disease, Recessive Intermediate A
rs28937906 in
GDAP1 gene and
Charcot-Marie-Tooth Disease, Recessive Intermediate A
PMID 12566285 2003 Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.
PMID 12499475 2002 Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.
PMID 15772096 2005 GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.
PMID 16172208 2005 Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.