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Article

The neurofilament light chain gene (NEFL) mutation Pro22Ser can be associated with mixed axonal and demyelinating neuropathy.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Jun 2009

Bhagavati Satyakam, Maccabee Paul J, Xu Weimin

Abstract excerpt

We report the detailed clinical, electrophysiological and molecular analysis of a patient with Charcot-Marie-Tooth (CMT) disease. DNA sequencing of the coding sequences of the neurofilament light chain polypeptide (NEFL) gene revealed a c.64C>T heterozygous, missense mutation resulting in a Pro22Ser amino acid substitution. Clinical and electrophysiological studies revealed a mixed axonal and demyelinating...

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Identifiers

PMID: 19286384
DOI: 10.1016/j.jocn.2008.08.030

Genes

NEFL

Variants

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