Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect.
Marzieh MojbafanReza BahmaniSamira Dabbagh BagheriZohreh SharifiSirous ZeinaliPublished in: Orphanet journal of rare diseases (2020)
This study can expand our knowledge about the genetic spectrum of LGMD in Iran, and also suggest the probable founder effects in some Iranian subpopulations which confirming it with more sample size can facilitate our genetic diagnosis and genetic counseling.
Keyphrases
- end stage renal disease
- genome wide
- copy number
- chronic kidney disease
- healthcare
- ejection fraction
- newly diagnosed
- muscular dystrophy
- peritoneal dialysis
- prognostic factors
- emergency department
- intellectual disability
- men who have sex with men
- hiv infected
- hepatitis c virus
- smoking cessation
- autism spectrum disorder
- hiv testing
- drug induced