ArticleAmerican journal of human genetics1999
Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7.
Article in American journal of human genetics, 1999. 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.
- Filamin C in cardiomyopathy: from physiological roles to DNA variants.Heart failure reviews · 2022Review
- Proteostasis and Diseases of the Motor Unit.Frontiers in molecular neuroscience · 2016Article
- DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies.Frontiers in molecular biosciences · 2016Review
- The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies.Journal of neuromuscular diseases · 2015Article
- Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.Neuromuscular disorders : NMD · 2014Article
- RNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies.Current gene therapy · 2012Review
- Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.Nature genetics · 2012Article
- Phenotypic and immunohistochemical characterization of sarcoglycanopathies.Clinics (Sao Paulo, Brazil) · 2011Article
- A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H.European journal of human genetics : EJHG · 2010Article
- A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of delta-SG protein.Journal of molecular medicine (Berlin, Germany) · 2007Article
- Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.Journal of medical genetics · 2005Article
- [Limb girdle muscular dystrophies].Der Nervenarzt · 2004Review
- myotilin Mutation found in second pedigree with LGMD1A.American journal of human genetics · 2002Article
- Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family.Human genetics · 2000Article
- Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin.The Journal of cell biology · 2000Article
- Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein.The Journal of cell biology · 2000Article
- 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
Corrections and comments
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Authors and funding
12 authors.
Funding
Abstract
We report the identification of a new locus for autosomal dominant limb-girdle muscular dystrophy (LGMD1) on 7q. Two of five families (1047 and 1701) demonstrate evidence in favor of linkage to this region. The maximum two-point LOD score for family 1047 was 3.76 for D7S427, and that for family 1701 was 2.63 for D7S3058. Flanking markers place the LGMD1 locus between D7S2423 and D7S427, with multipoint analysis slightly favoring the 9-cM interval spanned by D7S2546 and D7S2423. Three of five families appear to be unlinked to this new locus on chromosome 7, thus establishing further heterogeneity within the LGMD1 diagnostic classification.
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