Unravelling the Complexity of Dysferlinopathy- A Case Report Highlighting Digenic Inheritance of DYSF and MYH7 Mutations

Ali Torabi
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Ali Torabi: Medical Genetics Research Associate, University of Selcuk, Faculty of Medicine, Department of Medical Genetics, Konya, Turkey

Biomedical Journal of Scientific & Technical Research, 2023, vol. 53, issue 2, 44620-44624

Abstract: Dysferlinopathy encompasses a range of neuromuscular disorders arising from DYSF gene mutations, impacting the essential dysferlin protein’s role in muscle membrane repair. Recent research has expanded its functional repertoire to include muscle fiber regeneration and immune modulation. While primarily adhering to autosomal recessive inheritance, rare cases of dominant and digenic inheritance have emerged.

Keywords: Journals on Medical Drug and Therapeutics; Journals on Emergency Medicine; Physical Medicine and Rehabilitation; Journals on Infectious Diseases Addiction Science and Clinical Pathology; Open Access Clinical and Medical Journal; Journals on Biomedical Science; List of Open Access Medical Journal; Journals on Biomedical Engineering; Open Access Medical Journal; Biomedical Science Articles; Journal of Scientific and Technical Research (search for similar items in EconPapers)
Date: 2023
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Persistent link: https://EconPapers.repec.org/RePEc:abf:journl:v:53:y:2023:i:2:p:44620-44624

DOI: 10.26717/BJSTR.2023.53.008388

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