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Article

Phenotypic variability of CMT4C in a French-Canadian kindred.

Muscle & nerve - 1 Sept 2015

Varley Talia L, Bourque Pierre R, Baker Steven K

Abstract excerpt

INTRODUCTION: Charcot-Marie-Tooth type 4C (CMT4C) is an autosomal recessive dysmyelinating neuropathy characterized by precocious and rapidly progressive scoliosis. METHODS: Patients in a French-Canadian kindred were evaluated with clinical examination, electrophysiologic study, and genomic DNA extraction. RESULTS: Six of 10 siblings were clinically symptomatic with supportive electrophysiologic features. The...

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PMID: 25737037
DOI: 10.1002/mus.24640

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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