Journal article
Phenotypic variability of CMT4C in a French‐Canadian kindred
Abstract
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.
Authors
Varley TL; Bourque PR; Baker SK
Journal
Muscle & Nerve, Vol. 52, No. 3, pp. 444–449
Publisher
Wiley
Publication Date
9 2015
DOI
10.1002/mus.24640
ISSN
0148-639X