Home Page
References OMIM Gene GeneReviews HGMD HGNC
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))