Charcot-Marie-Tooth disease, demyelinating, type 1F

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Charcot-Marie-Tooth disease, demyelinating, type 1F

An autosomal dominant form (OMIM:607734) of Charcot-Marie-Tooth disease characterised by an early (ages 1–13) onset of sensorineural hearing loss, segmental demyelination and remyelination with onion-bulb formation on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollowed feet.  

Molecular pathology
Defects of NEFL, which encodes a light-chain neurofilament protein involved in maintaining neuronal calibre, cause Charcot-Marie-Tooth disease type 1F.
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