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GENATLAS PHENOTYPE

last update : 10-03-2010

Symbol	CMT2K
Location	8q21.11
Name	Charcot-Marie-Tooth disease, axonal, type 2K
Other name(s)	Charcot-Marie-Tooth neuropathy, type 2K
Corresponding gene	GDAP1
Main clinical features	onset in early childhood (younger than 3 years),characterized by hypotonia at birth and delayed development of early motor milestones, in infancy difficulty walking, foot deformities, kyphoscoliosis, distal limb muscle weakness and atrophy, areflexia including axonal form of CMT with vocal cord paresis, leading to disability by the end of the first decade and on the sural nerve biopsy marked loss of myelinated fibers, axonal degeneration and regeneration, and occasional onion bulb formations (OMIM 607706 )
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Gene product

Name	ganglioside-induced differentiation-associated protein 1

Remark(s)

. dominant mutations impair mitochondrial fusion and cause mitochondrial damage (PMID: 19782751))