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

8p21 GeneReviews Google OMIM PubMed Who named it? [Charcot-Marie-Tooth disease]

*Gene map locus 8p21

CMT1F

Charcot-Marie-Tooth neuropathy, type 1F

[Clinical features: decreased motor nerve conduction velocity; segmental demyelination and remyelination with onion bulb formations on nerve biopsy; distal limb muscle weakness and atrophy; distal sensory loss; diminished reflexes; pes cavus]

[Inheritance: autosomal dominant]


Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease	Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease
Brain	Brain

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Edited by Aldo Campana, August 21, 2012