Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B) caused by Pathogenic Splice and Missense Variants of DYSF Gene among Iranians with Muscular Dystrophy

BACKGROUND: The phenotypic range of limb-girdle muscular dystrophies (LGMDs) varies significantly because of genetic heterogeneity ranging from very mild to severe forms. Molecular analysis of the DYSF gene is challenging due to the wide range of mutations and associated complications in interpretat...

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Detalles Bibliográficos
Autores principales: Arab, Fatemeh, Ahangari, Najmeh, Malek, Hadis, Doosti, Mohammad, Najarzadeh Torbati, Paria, Ghayoor Karimiani, Ehsan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10410417/
https://www.ncbi.nlm.nih.gov/pubmed/37564451
http://dx.doi.org/10.4103/abr.abr_131_22

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