ArticleAmerican journal of human genetics1995
Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 48 citations in OpenAlex.
- Identification and functional characterization of a novel heterozygous splice‑site mutation in the calpain 3 gene causes rare autosomal dominant limb‑girdle muscular dystrophy.Experimental and therapeutic medicine · 2024Article
- [Limb girdle muscular dystrophies].Der Nervenarzt · 2004Review
- Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3.American journal of human genetics · 2001Article
- Predicting the range of linkage disequilibrium.Proceedings of the National Academy of Sciences of the United States of America · 2000Article
- Calpainopathy-a survey of mutations and polymorphisms.American journal of human genetics · 1999Article
- Localization of the gene for congenital dyserythropoietic anemia type I to a <1-cM interval on chromosome 15q15.1-15.3.American journal of human genetics · 1998Article
- DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene.American journal of human genetics · 1997Article
- Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.American journal of human genetics · 1997Article
- Recombinant expression and isolation of human L-arginine:glycine amidinotransferase and identification of its active-site cysteine residue.The Biochemical journal · 1997Article
- The Réunion paradox and the digenic model.American journal of human genetics · 1996Article
- Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.American journal of human genetics · 1996Article
- Multiple mutations in a specific gene in a small geographic area: a common phenomenon?American journal of human genetics · 1996Article
- An STS map of the limb girdle muscular dystrophy type 2A region.Mammalian genome : official journal of the International Mammalian Genome Society · 1995Article
- A foundation for limb-girdle muscular dystrophy.Nature medicine · 1995Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A gene for a recessive form of limb-girdle muscular dystrophy (LGMD2A) has been localized to chromosome 15. A physical map of the 7-cM candidate 15q15.1-q21.1 region has been constructed by means of a 10-12-Mb continuum of overlapping YAC clones. New microsatellite markers developed from these YACs were genotyped on large, consanguineous LGMD2A pedigrees from different origins. The identification of recombination events in these families allowed the restriction of the LGMD2A region to an estimated 1-cM interval, equivalent to approximately 3-4 Mb. Linkage disequilibrium data on genetic isolates from the island of Réunion and from the Amish community suggest a preferential location of the LGMD2A gene in the proximal part of this region. Analysis of the interrelated pedigrees from Réunion revealed the existence of at least six different carrier haplotypes. This allelic heterogeneity is incompatible with the presumed existence of a founder effect and suggests that multiple LGMD2A mutations may segregate in this population.
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7762565PMC1801081W1507831787What OpenQuestion holds
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