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...

Descripción completa

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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9408934/
https://www.ncbi.nlm.nih.gov/pubmed/36012197
http://dx.doi.org/10.3390/ijms23168932

Ejemplares similares