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SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles
OBJECTIVE: To identify the genetic etiology and characterize the clinicopathologic features of a novel distal myopathy. METHODS: We performed whole-exome sequencing on a family with an autosomal dominant distal myopathy and targeted exome sequencing in 1 patient with sporadic distal myopathy, both w...
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| 出版年: | Neurology |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Lippincott Williams & Wilkins
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4553032/ https://ncbi.nlm.nih.gov/pubmed/26208961 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001864 |
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