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Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect

BACKGROUND: Limb-girdle muscular dystrophies are a group of genetically heterogeneous diseases that are inherited in both autosomal dominant (LGMDD) and autosomal recessive forms (LGMDR), the latter is more common especially in populations with high consanguineous marriages like Iran. In the present...

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Detalles Bibliográficos
Autores principales: Mojbafan, Marzieh, Bahmani, Reza, Bagheri, Samira Dabbagh, Sharifi, Zohreh, Zeinali, Sirous
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6961257/
https://www.ncbi.nlm.nih.gov/pubmed/31937337
http://dx.doi.org/10.1186/s13023-020-1296-x