Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2

Volume: 21, Issue: 2, Pages: 79 - 86
Published: Dec 12, 2019
Abstract
Charcot-Marie-Tooth disease type 2 (CMT2) is a clinically and genetically heterogeneous inherited neuropathy. Although new causative and disease-associated genes have been identified for CMT2 in recent years, molecular diagnoses are still lacking for a majority of patients. We here studied a cohort of 35 CMT2 patients of Chinese descent, using whole exome sequencing to investigate gene mutations and then explored relationships among genotypes,...
Paper Details
Title
Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2
Published Date
Dec 12, 2019
Volume
21
Issue
2
Pages
79 - 86
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