De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy
Abstract
Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous disorder of the peripheral nervous system. Biallelic variants in SLC12A6 have been associated with autosomal-recessive hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC). We identified heterozygous de novo variants in SLC12A6 in three unrelated patients with intermediate CMT.We evaluated the clinical reports and...
Paper Details
Title
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy
Published Date
Aug 22, 2019
Journal
Volume
57
Issue
4
Pages
283 - 288
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