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The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy
Here, we present a small Russian family, where the index patient received a diagnosis of left-ventricular non-compaction cardiomyopathy (LVNC) in combination with a skeletal myopathy. Clinical follow-up analysis revealed a LVNC phenotype also in her son. Therefore, we applied a broad next-generation...
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| Опубликовано в: : | Genes (Basel) |
|---|---|
| Главные авторы: | , , , , , , , , , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
MDPI
2021
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7835827/ https://ncbi.nlm.nih.gov/pubmed/33478057 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12010121 |
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