Portrait of Dysferlinopathy: Diagnosis and Development of Therapy
C Bouchard, JP Tremblay - Journal of Clinical Medicine, 2023 - mdpi.com
Dysferlinopathy is a disease caused by a dysferlin deficiency due to mutations in the DYSF
gene. Dysferlin is a membrane protein in the sarcolemma and is involved in different …
gene. Dysferlin is a membrane protein in the sarcolemma and is involved in different …
The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments
Dysferlinopathies refer to a spectrum of muscular dystrophies that cause progressive muscle
weakness and degeneration. They are caused by mutations in the DYSF gene, which …
weakness and degeneration. They are caused by mutations in the DYSF gene, which …