Dysferlinopathy: A Case Report and Literature Update
Dysferlinopathy is a rare autosomal recessive myopathy, resulting in the lack or absence of dysferlin production caused by mutations in the encoding gene. Dysferlin is a sarcolemmal membrane protein involved in the repair of membrane damage caused by calcium. There are four identified phenotypic dys...
Gorde:
| Egile Nagusiak: | , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
İstanbul Training and Research Hospital
2016-12-01
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| Saila: | İstanbul Medical Journal |
| Gaiak: | |
| Sarrera elektronikoa: |
http://imj.galenos.com.tr/archives/archive-detail/article-preview/dysferlinopathy-a-case-report-and-literature-updat/20800
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| Etiketak: |
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