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...
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| Hlavní autoři: | , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
İstanbul Training and Research Hospital
2016-12-01
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| Edice: | İstanbul Medical Journal |
| Témata: | |
| On-line přístup: |
http://imj.galenos.com.tr/archives/archive-detail/article-preview/dysferlinopathy-a-case-report-and-literature-updat/20800
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