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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease type 4B2


Autosomal recessive Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a demyelinating hereditary motor and sensory neuropathy characterized by abnormal folding of myelin sheaths. CMT4B1 (601382) is a clinically similar disorder caused by mutation in the MTMR2 gene (603557) on 11q22. For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating CMT, see CMT4A (214400). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CMT4B2, DENND7B, MTMR13, SBF2
    Summary: SET binding factor 2

Clinical features


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