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A review and analysis of the clinical literature on Charcot-Marie-Tooth disease caused by mutations in neurofilament protein L.

Cytoskeleton (Hoboken, N.J.) - 1 Mar 2021

Stone Elizabeth J, Kolb Stephen J, Brown Anthony

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders and can be caused by mutations in over 100 different genes. One of the causative genes is NEFL on chromosome 8 which encodes neurofilament light protein (NEFL), one of five proteins that co-assemble to form neurofilaments. At least 34 different CMT-causing mutations in NEFL have been reported which span the head, rod, and...

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PMID: 33993654
DOI: 10.1002/cm.21676
PMCID: PMC10174713

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