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Autosomal dominant Charcot-Marie-Tooth disease type 2K
An axonal Charcot-Marie-Tooth (CMT) peripheral sensorimotor polyneuropathy.
ORPHA:99944Classification level: Disorder
CMT2K is a rare form of CMT with only three families reported in the literature so far.
It is characterized by a mild phenotype with onset during the second decade of life and very slow progression. Walking ability is retained (one of the reported patients was still able to walk at 70 years of age).
CMT2K is caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission. Mutations in the same gene are associated with severe early-onset forms of CMT: CMT4A (an autosomal recessive demyelinating form of CMT4) and CMT4C4 (another autosomal recessive form of CMT4 with an axonal phenotype and an association with vocal cord paralysis; see this term).
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