Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy

Sarcoglycanopathy is the most frequent form of autosomal recessive limb-girdle muscular dystrophies caused by mutations in SGCB gene encoding beta-sarcoglycan proteins. In this study, we describe a shared, common haplotype co-segregating in 14 sarcoglycanopathy cases from 13 unrelated families from...

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Detalles Bibliográficos
Autores principales: Sanga, Shamita, Chakraborty, Sudipta, Bardhan, Mainak, Polavarapu, Kiran, Kumar, Veeramani Preethish, Bhattacharya, Chandrika, Nashi, Saraswati, Vengalil, Seena, Geetha, Thenral S., Ramprasad, Vedam, Nalini, Atchayaram, Basu, Analabha, Acharya, Moulinath
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10497502/
https://www.ncbi.nlm.nih.gov/pubmed/37699968
http://dx.doi.org/10.1038/s41598-023-41487-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10497502/
https://www.ncbi.nlm.nih.gov/pubmed/37699968
http://dx.doi.org/10.1038/s41598-023-41487-6

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