CMT2A1

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).