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CMT2A1

MIM.118210

Tuesday 20 December 2011

Charcot-Marie-Tooth (CMT) disease-2A1 results from mutation in the KIF1B gene (MIM.605995) on chromosome 1p36.2.

A second form of CMT2A mapping to chromosome 1p36.2, CMT2A2 (MIM.609260), results from mutation in the MFN2 gene (MIM.608507).

See also

Charcot-Marie-Tooth disease

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 slow motor median nerve conduction velocity (NCV) (less than 38 m/s),
- type 2, the axonal form, with a normal or slightly reduced NCV.

Distal hereditary motor neuropathy (dHMN), also known as spinal CMT, is a third type of CMT characterized by normal motor and sensory NCV and degeneration of spinal cord anterior horn cells.

- CMT1B (MIM.118200) and CMT1A (MIM.118220): autosomal dominant slow nerve conduction types of Charcot-Marie-Tooth disease.
- CMT4A (MIM.214400) and CMTX1 (MIM.302800): autosomal recessive and X-linked forms of Charcot-Marie-Tooth disease.

Several forms of axonal CMT neuropathies caused by mutations in different genes or at different loci have been described:
- CMT2B (MIM.600882)
- CMT2B1 (MIM.605588)
- CMT2B2 (MIM.605589)
- CMT2C (MIM.606071)
- CMT2D (MIM.601472)
- CMT2E (MIM.607684)
- CMT2F (MIM.606595)
- CMT2G (MIM.608591)
- CMT2H (MIM.607731)
- CMT2I (MIM.607677)
- CMT2J (MIM.607736)
- CMT2K (MIM.607831)
- CMT2L (MIM.608673)
- CMT2M (MIM.606482)
- CMT2N (MIM.613287)
- CMT2O (MIM.614228).