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Spinal muscular atrophy with lower limbs phenotype: clinical and genetic description of novel mutation in the DYNC1H1 gene
Background. Spinal muscle atrophies (SMA) are a group of diverse heterogenous diseases caused by mutations in several dozens of genes. A rare form of autosomal dominant SMA predominantly affects muscles of the lower extremities.The study objective is to describe clinical and genetic characteristics...
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| 主要な著者: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Russo |
| 出版事項: |
ABV-press
2018-07-01
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| シリーズ: | Nervno-Myšečnye Bolezni |
| 主題: | |
| オンライン･アクセス: | https://nmb.abvpress.ru/jour/article/view/284 |
| タグ: |
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