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Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene
Myopathies caused by MYH7 gene mutations are clinically and pathologically heterogeneous and, until recently, difficult to diagnose. The availability of NGS panels for hereditary neuromuscular diseases changed our insight regarding their frequency and allowed a better perception of the different phe...
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| Опубликовано в: : | Acta Myol |
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| Главные авторы: | , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Pacini Editore Srl
2020
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7315894/ https://ncbi.nlm.nih.gov/pubmed/32607476 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.36185/2532-1900-004 |
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