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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease type 2B1

Charcot-Marie-Tooth disease type 2B1

Synonyms
CMT 2B1; Charcot-Marie-Tooth Neuropathy Type 2B1; Charcot-Marie-Tooth disease, axonal, Type 2B1; Charcot-Marie-Tooth disease, neuronal, Type 2B1
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory neuropathies. On the basis of electrophysiologic criteria, CMT is divided into 2 major types: type 1, the demyelinating form, characterized by a motor median nerve conduction velocity less than 38 m/s (see CMT1B; 118200); and type 2, the axonal form, with a normal or slightly reduced nerve conduction velocity. For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A1 (118210). [from OMIM]

Available tests

135 tests are in the database for this condition.

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Clinical tests (135 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, MADA, PRO1, LMNA
    Summary: lamin A/C

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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