ArticleJournal of medical genetics2000
A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families.
Article in Journal of medical genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region.Italian journal of pediatrics · 2026Article
- Article
- Experiences in the molecular genetic and histopathological evaluation of calpainopathies.Neurogenetics · 2022Article
- Genetic variability in Iranian limb-girdle muscular dystrophy type 2B patients: An evidence of a founder effect.Molecular genetics & genomic medicine · 2019Article
- Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2018Article
- Sarcolemmal deficiency of sarcoglycan complex in an 18-month-old Turkish boy with a large deletion in the beta sarcoglycan gene.Balkan journal of medical genetics : BJMG · 2015Article
- A Haplotype of Two Novel Polymorphisms in δ-Sarcoglycan Gene Increases Risk of Dilated Cardiomyopathy in Mongoloid Population.PloS one · 2015Article
- Dysferlin deficiency treated like refractory polymyositis.Clinical rheumatology · 2010Article
- Calpain-3 mutations in Turkey.European journal of pediatrics · 2006Article
Corrections and comments
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Limb-girdle muscular dystrophies constitute a broad range of clinical and genetic entities. We have evaluated 38 autosomal recessive limb-girdle muscular dystrophy (LGMD2) families by linkage analysis for the known loci of LGMD2A-F and protein studies using immunofluorescence and western blotting of the sarcoglycan complex. One index case in each family was investigated thoroughly. The age of onset and the current ages were between 11/2 and 15 years and 6 and 36 years, respectively. The classification of families was as follows: calpainopathy 7, dysferlinopathy 3, alpha sarcoglycan deficiency 2, beta sarcoglycan deficiency 7, gamma sarcoglycan deficiency 5, delta sarcoglycan deficiency 1, and merosinopathy 2. There were two families showing an Emery-Dreifuss phenotype and nine showing no linkage to the LGMD2A-F loci, and they had preserved sarcoglycans. gamma sarcoglycan deficiency seems to be the most severe group as a whole, whereas dysferlinopathy is the mildest. Interfamilial variation was not uncommon. Cardiomyopathy was not present in any of the families. In sarcoglycan deficiencies, sarcoglycans other than the primary ones may also be considerably reduced; however, this may not be reflected in the phenotype. Many cases of primary gamma sarcoglycan deficiency showed normal or only mildly abnormal delta sarcoglycan staining.
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