Miyoshi Muscular Dystrophy Due to Novel Splice Site Variants in DYSF Gene

Dysferlinopathies are a group of phenotypically heterogeneous disorders caused by pathogenic variants in the DYSF (DYStrophy-associated Fer-1-like) gene encoding dysferlin. The phenotypic spectrum includes Miyoshi muscular dystrophy (MMD), limb-girdle muscular dystrophy type R2, distal myopathy with...

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Detalles Bibliográficos
Autores principales: Bryant, Grace, Moore, Steven A., Nix, James S., Rice, Grace, Gokden, Murat, Veerapandiyan, Aravindhan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9677140/
https://www.ncbi.nlm.nih.gov/pubmed/36419651
http://dx.doi.org/10.1177/2329048X221140298

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9677140/
https://www.ncbi.nlm.nih.gov/pubmed/36419651
http://dx.doi.org/10.1177/2329048X221140298

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