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Article

Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.

Archives of neurology - 1 Jul 2007

Miltenberger-Miltenyi Gabriel, Janecke Andreas R, Wanschitz Julia V, Timmerman Vincent, Windpassinger Christian, Auer-Grumbach Michaela, Löscher Wolfgang N

Abstract excerpt

BACKGROUND: To date, 13 different neurofilament light-chain polypeptide gene (NEFL) mutations have been identified in 55 patients with Charcot-Marie-Tooth disease (CMT) from 16 families. NEFL mutations were found to be associated with axonal and demyelinating variants of CMT. OBJECTIVES: To describe the clinical features of 11 patients with CMT and NEFL mutations and to explore possible genotype-phenotype...

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Source

Identifiers

PMID: 17620486
DOI: 10.1001/archneur.64.7.966

Genes

NEFL
GJB1
MPZ
PMP22

Variants

Provenance

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