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...
| 出版年: | Frontiers in Neurology |
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| 主要な著者: | , , |
| フォーマット: | 論文 |
| 言語: | 英語 |
| 出版事項: |
Frontiers Media S.A.
2020-01-01
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| 主題: | |
| オンライン･アクセス: | https://www.frontiersin.org/article/10.3389/fneur.2019.01375/full |