A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B

Mutations in the DYSF gene, encoding dysferlin, are responsible for Limb Girdle Muscular Dystrophy type R2/2B (LGMDR2/2B), Miyoshi myopathy (MM), and Distal Myopathy with Anterior Tibialis onset (MDAT). The size of the gene and the reported inter and intra familial phenotypic variability make early...

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Detalles Bibliográficos
Autores principales: Spadafora, Patrizia, Qualtieri, Antonio, Cavalcanti, Francesca, Di Palma, Gemma, Gallo, Olivier, De Benedittis, Selene, Cerantonio, Annamaria, Citrigno, Luigi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9408934/
https://www.ncbi.nlm.nih.gov/pubmed/36012197
http://dx.doi.org/10.3390/ijms23168932

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