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

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

Abstract 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...

Full description

Bibliographic Details
Main Authors: Marzieh Mojbafan, Reza Bahmani, Samira Dabbagh Bagheri, Zohreh Sharifi, Sirous Zeinali
Format: Article
Language:English
Published: BMC 2020-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Limb-girdle muscular dystrophy
Autozygosity mapping
Founder effect
Novel mutations
Iran
Online Access:https://doi.org/10.1186/s13023-020-1296-x

Internet

https://doi.org/10.1186/s13023-020-1296-x

Similar Items