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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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| Главные авторы: | , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Frontiers Media S.A.
2020-01-01
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| Серии: | Frontiers in Neurology |
| Предметы: | |
| Online-ссылка: | https://www.frontiersin.org/article/10.3389/fneur.2019.01375/full |
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