ArticleMolecular genetics & genomic medicine2019
Genetic variability in Iranian limb-girdle muscular dystrophy type 2B patients: An evidence of a founder effect.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 2 citations in OpenAlex.
- Whole-Exome Sequencing in Undiagnosed Muscular Dystrophies: A High Diagnostic Yield and Novel Insights From Iranian Families.Human mutation · 2026Article
- A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies.Human genomics · 2025Article
- Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect.Orphanet journal of rare diseases · 2020Article
- Genetic variability in Iranian limb-girdle muscular dystrophy type 2B patients: An evidence of a founder effect.Molecular genetics & genomic medicine · 2019Article
Corrections and comments
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Authors and funding
6 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDysferlinopathies are a group of autosomal recessive limb-girdle muscular dystrophies (LGMDs) caused by mutations in DYSF (#603,009). This gene encodes a transmembrane protein called dysferlin. Since there are few reports on Iranian dysferlinopathy patients, we tried to identify the DYSF mutations in affected individuals of Iran.
methodsEight unrelated Iranian families have been selected for this study. Sanger sequencing followed by haplotype analysis was performed to identify individual variations in DYSF sequence. Identified variants were analyzed, and their pathogenicity was interpreted according to the recommendations of the American College of Medical Genetics and Genomics.
resultsWe identified two new mutations in DYSF, the first one is a nonsense mutation c.2419C > T (p.Gln807*), which eliminates downstream part of the protein. Another novel mutation is c. (1,053 + 1_1,054-1)_(1,397 + 1_1,398-1)del, which causes deletion of the DNA segment from exon 12 to exon 15.
conclusionTwo of the other six families are from the same ethnicity and share the same mutation and haplotype patterns, suggesting a founder mutation. Genetic analysis of dysferlinopathy can prevent a wrong diagnosis of myositis for these patients.
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