Article
The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments
2023-11-13
Abstract excerpt
Dysferlinopathies comprise a spectrum of muscular dystrophies characterized by progressive muscle weakness and degeneration due to mutations in the DYSF gene, which encodes the dysferlin protein critical for muscle membrane repair. This review delves into the clinical spectra of dysferlinopathies, their molecular mechanisms, and the spectrum of emerging therapeutic strategies. We explore the phenotypic heterogenei...
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Identifiers and source
- Literature Corpus work
- cfec9e5a-bdbf-5c1d-aee1-7a2b410a21e1
- DOI
- 10.20944/preprints202311.0801.v1