Charcot-Marie-Tooth disease—axonal—2P

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Charcot-Marie-Tooth disease—axonal—2P2016-11-25T08:21:09+00:00

Charcot-Marie-Tooth disease—axonal—2P

NEUROLOGY

A form (OMIM:614436) of Charcot-Marie-Tooth disease* characterised by axonal degeneration without obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

*A disorder of the peripheral nervous system characterised by progressive weakness and atrophy, initially of peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies—designated CMT1 when they are autosomal dominant and CMT2 if they are primary peripheral axonal neuropathies. 

Molecular pathology Defects of LRSAM1, which encodes a ring finger protein involved in various cell activities–e.g., regulating signalling pathways and cell adhesion, mediating self-ubiquitylation, and sorting endogenous and exogenous proteins, have been associated with Charcot-Marie-Tooth disease 2P.  

Synonyms Charcot-Marie-Tooth neuropathy, CMT2P

References http://www.uniprot.org/uniprot/Q6UWE0

http://www.omim.org/entry/614436

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