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Novel Desmin Mutation Causing Myofibrillar Myopathy in a Hmong Family
Myofibrillar myopathies (MFM) are a clinically and genetically heterogenous group of inherited myopathies characterized by aggregation of Z-disc proteins. Mutations in desmin account for ~7% of MFM. We report here a Hmong family with an autosomal dominant MFM caused by a novel variant in the desmin...
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| Publicado en: | Front Neurol |
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| Autores principales: | , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Frontiers Media S.A.
2020
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6965354/ https://ncbi.nlm.nih.gov/pubmed/31998224 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2019.01375 |
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