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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayinevi
2016-12-01
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| Series: | İstanbul Medical Journal |
| Subjects: | |
| Online Access: |
http://imj.galenos.com.tr/archives/archive-detail/article-preview/dysferlinopathy-a-case-report-and-literature-updat/20800
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