Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 2EAn autosomal dominant form (OMIM:607684) of Charcot-Marie-Tooth disease 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.
Defects in NEFL, which encodes a light-chain neurofilament protein involved in maintaining neuronal calibre, cause Charcot-Marie-Tooth disease type 2E.
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