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

Charcot-Marie-Tooth disease axonal type 2U

Synonyms
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2U
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

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.

Check Related conditions for additional relevant tests.

Clinical tests (12 available)

Molecular Genetics Tests

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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Imported from Human Phenotype Ontology (HPO)

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