ArticleAmerican journal of human genetics1998
A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 114 citations in OpenAlex.
- Review
- Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy.Frontiers in neurology · 2023Article
- Sarcotubular Myopathy Due to NovelBrain sciences · 2021Article
- Article
- Tripartite motif 32 prevents pathological cardiac hypertrophy.Clinical science (London, England : 1979) · 2016Article
- Limb-girdle muscular dystrophies - international collaborations for translational research.Nature reviews. Neurology · 2016Review
- The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies.Journal of neuromuscular diseases · 2015Article
- Shades of gray: a comparison of linkage disequilibrium between Hutterites and Europeans.Genetic epidemiology · 2010Article
- [Limb girdle muscular dystrophies].Der Nervenarzt · 2004Review
- Limb-girdle muscular dystrophy.Current neurology and neuroscience reports · 2003Review
- Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.American journal of human genetics · 2002Article
- Dysferlin protein analysis in limb-girdle muscular dystrophies.Journal of molecular neuroscience : MN · 2001Article
- Polydom: a secreted protein with pentraxin, complement control protein, epidermal growth factor and von Willebrand factor A domains.The Biochemical journal · 2000Article
- A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families.Journal of medical genetics · 2000Article
- Calpainopathy-a survey of mutations and polymorphisms.American journal of human genetics · 1999Article
- Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity.American journal of human genetics · 1999Article
- Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone.Genetics in medicine : official journal of the American College of Medical GeneticsArticle
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Characterized by proximal muscle weakness and wasting, limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of clinical disorders. Previous reports have documented either autosomal dominant or autosomal recessive modes of inheritance, with genetic linkage studies providing evidence for the existence of at least 12 distinct loci. Gene products have been identified for five genes responsible for autosomal recessive forms of the disorder. We performed a genome scan using pooled DNA from a large Hutterite kindred in which the affected members display a mild form of autosomal recessive LGMD. A total of 200 markers were used to screen pools of DNA from patients and their siblings. Linkage between the LGMD locus and D9S302 (maximum LOD score 5.99 at recombination fraction .03) was established. Since this marker resides within the chromosomal region known to harbor the gene causing Fukuyama congenital muscular dystrophy (FCMD), we expanded our investigations, to include additional markers in chromosome region 9q31-q34.1. Haplotype analysis revealed five recombinations that place the LGMD locus distal to the FCMD locus. The LGMD locus maps close to D9S934 (maximum multipoint LOD score 7.61) in a region that is estimated to be approximately 4.4 Mb (Genetic Location Database composite map). On the basis of an inferred ancestral recombination, the gene may lie in a 300-kb region between D9S302 and D9S934. Our results provide compelling evidence that yet another gene is involved in LGMD; we suggest that it be named "LGMD2H."
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