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Article

Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants.

Neuromuscular disorders : NMD - 1 Jul 2020

Ma Maxwell T, Chen Dong-Hui, Raskind Wendy H, Bird Thomas D

Abstract excerpt

Distal hereditary motor neuropathy (dHMN) is an inherited neuromuscular disease characterized by symmetric distal weakness and atrophy without sensory changes. There are about thirty known genes associated with dHMN, but together they explain only about a third of cases. Mutations in the sigma non-opioid intracellular receptor 1 gene (SIGMAR1) has been linked to autosomal recessive dHMN with pyramidal signs in...

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Identifiers

PMID: 32600828
DOI: 10.1016/j.nmd.2020.05.005
PMCID: PMC7387213

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