ArticleEuropean journal of human genetics : EJHG2010
A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 33 citations in OpenAlex.
- Development of differential diagnostic models for distinguishing between limb-girdle muscular dystrophy and idiopathic inflammatory myopathy.Arthritis research & therapy · 2024Article
- Limb-Girdle Muscular Dystrophies Classification and Therapies.Journal of clinical medicine · 2023Review
- Update on muscle disease.Journal of neurology · 2018Review
- The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies.Journal of neuromuscular diseases · 2015Article
- Genetic basis of limb-girdle muscular dystrophies: the 2014 update.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2014Review
- Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Molecular medicine reports · 2014Review
- An estimating function approach to linkage heterogeneity.Journal of genetics · 2013Article
- Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.Journal of neurology · 2013Article
- RNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies.Current gene therapy · 2012Review
- Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.Annals of neurology · 2012Article
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Authors and funding
14 authors at 6 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Limb-girdle muscular dystrophies (LGMDs) are a genetically heterogeneous group of neuromuscular disorders with a selective or predominant involvement of shoulder and pelvic girdles. We clinically examined 19 members in a four-generation Italian family with autosomal-dominant LGMD. A total of 11 subjects were affected. Clinical findings showed variable expressivity in terms of age at onset and disease severity. Five subjects presented with a slowly progressive proximal muscle weakness, in both upper and lower limbs, with onset during the fourth-fifth decade of life, which fulfilled the consensus diagnostic criteria for LGMD. Earlier onset of the disease was observed in a group of patients presenting with muscle weakness and/or calf hypertrophy, and/or occasionally high CK and lactate serum levels. Two muscle biopsies showed morphological findings compatible with MD associated with subsarcolemmal accumulation of mitochondria and the presence of multiple mitochondrial DNA deletions. A genome-wide scan performed using microsatellite markers mapped the disease on chromosome 3p23-p25.1 locus in a 25-cM region between markers D3S1263 and D3S3685. The highest two-point LOD score was 3.26 (theta=0) at marker D3S1286 and D3S3613, whereas non-parametric analysis reached a P-value=0.0004. Four candidate genes within the refined region were analysed but did not reveal any mutations. Our findings further expand the clinical and genetic heterogeneity of LGMDs.
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