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Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression
OBJECTIVE: We report a second family with autosomal dominant transportinopathy presenting with congenital or early-onset myopathy and slow progression, causing proximal and less pronounced distal muscle weakness. METHODS: Patients had clinical examinations, muscle MRI, EMG, and muscle biopsy studies...
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| 出版年: | Neurol Genet |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Wolters Kluwer
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6515942/ https://ncbi.nlm.nih.gov/pubmed/31192305 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000337 |
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