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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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| Publicado en: | Neuromuscul Disord |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2020
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| Assuntos: | |
| Acceso en liña: | 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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