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CLINICAL UTILITY OF RNA SEQUENCING TO RESOLVE UNUSUAL GNE MYOPATHY WITH A NOVEL PROMOTER DELETION
INTRODUCTION: UDP N-acetylglucosamine2-epimerase/N-acetylmannosamine-kinase (GNE) gene mutations can cause mostly autosomal-recessive myopathy with juvenile-onset known as hereditary inclusion-body myopathy (HIBM). METHODS: We describe a family of a patient showing an unusual HIBM with both vacuolar...
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| 出版年: | Muscle Nerve |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7688010/ https://ncbi.nlm.nih.gov/pubmed/30990900 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.26486 |
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