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: | Orkide Kutlu, Can Ebru Bekircan Kurt, İbrahim Ünsal, Zeynep Arıbaş, Bilge Renkliyıldız, Hasan Eruzun, Ayşe Duran Karagülmez, Sevim Erdem Özdamar |
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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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