Charcot-Marie-Tooth disease—axonal—2N

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Charcot-Marie-Tooth disease—axonal—2N2016-11-25T08:02:46+00:00

Charcot-Marie-Tooth disease—axonal—2N

NEUROLOGY

Definition An autosomal dominant axonal form (OMIM:613287) of Charcot-Marie-Tooth disease, which is characterised by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms.

*A disorder of the peripheral nervous system; Charcot-Marie-Tooth disease is classified in two main groups based on electrophysiology and histopathology: primary peripheral demyelinating neuropathies–CMT1 and primary peripheral axonal neuropathies–CMT2. CMT2 neuropathies are characterised by axonal regeneration in absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced.  

Molecular pathology Defects of AARS, which encodes alanyl-tRNA synthetase, an enzyme that catalyses the attachment of alanine to tRNA, cause Charcot-Marie-Tooth disease—axonal—2N. 

Reference http://www.uniprot.org/uniprot/P49588

http://www.omim.org/entry/613287

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