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

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-o...

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Bibliographic Details
Published in:Neuromuscul Disord
Main Authors: Ma, Maxwell T., Chen, Dong-Hui, Raskind, Wendy H., Bird, Thomas D.
Format: Artigo
Language:Inglês
Published: 2020
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7387213/
https://ncbi.nlm.nih.gov/pubmed/32600828
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2020.05.005
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