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Article

Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients.

Journal of medical genetics - 1 Apr 2021

Volodarsky Michael, Kerkhof Jennifer, Stuart Alan, Levy Michael, Brady Lauren I, Tarnopolsky Mark, Lin Hanxin, Ainsworth Peter, Sadikovic Bekim

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is one of the most common Mendelian disorders characterised by genetic heterogeneity, progressive distal muscle weakness and atrophy, foot deformities and distal sensory loss. In this report, we describe genetic testing data including comprehensive sequencing and copy number analysis of 34 CMT-related genes in a Canadian cohort of patients with suspected CMT. We have demonstrated...

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PMID: 32376792
DOI: 10.1136/jmedgenet-2019-106641

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