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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease axonal type 2U


Charcot-Marie-Tooth disease type 2U (CMT2U) is an autosomal dominant neurologic disorder characterized by late-adult onset of distal sensory impairment resulting in distal muscle weakness and atrophy affecting the upper and lower limbs. The disorder is slowly progressive (summary by Gonzalez et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210). [from OMIM]

Available tests

12 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: CMT2U, ILFS2, ILLD, MARS, METRS, MRS, MTRNS, SPG70, TTD9, MARS1
    Summary: methionyl-tRNA synthetase 1

Clinical features


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