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Charcot-Marie-Tooth disease type 2B2
Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.
ORPHA:101101Classification level: Disorder
Onset occurs in adulthood (between 26 and 42 years of age) with symmetric moderate to severe weakness of the distal muscles, predominantly affecting the lower extremities. Marked sensory deficits were also reported.
CMT2B2 is transmitted in an autosomal recessive manner and the disease-causing gene was mapped to chromosome 19q13.3 (MED25).
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