Article
Dysferlinopathies: Clinical and genetic variability.
Clinical genetics - 1 Dec 2022
Ivanova Alisa, Smirnikhina Svetlana, Lavrov Alexander
Abstract excerpt
Dysferlinopathies are a clinically heterogeneous group of diseases caused by mutations in the DYSF gene encoding the dysferlin protein. Dysferlin is mostly expressed in muscle tissues and is localized in the sarcolemma, where it performs its main function of resealing and maintaining of the integrity of the cell membrane. At least four forms of dysferlinopathies have been described: Miyoshi myopathy, limb-girdle...
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