ArticleJournal of medical genetics1997
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 116 citations in OpenAlex.
- Genotype-phenotype correlations in alpha-sarcoglycanopathy: a systematic review.Irish journal of medical science · 2022Pooled it
- Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.Annals of neurology · 2010Trial
- Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins.Annals of neurology · 2009Trial
- Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.Orphanet journal of rare diseases · 2025Article
- Article
- Dual Blockade of Misfolded Alpha-Sarcoglycan Degradation by Bortezomib and Givinostat Combination.Frontiers in pharmacology · 2022Article
- A Journey with LGMD: From Protein Abnormalities to Patient Impact.The protein journal · 2021Review
- Article
- Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.Annals of clinical and translational neurology · 2020Article
- Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.Frontiers in neurology · 2020Article
- Identification of a novel SGCA missense mutation in a case of limb-girdle muscular dystrophy 2D with the absence of four sarcoglycan proteins.Neuropathology : official journal of the Japanese Society of Neuropathology · 2019Article
- Identification of thiostrepton as a pharmacological approach to rescue misfolded alpha-sarcoglycan mutant proteins from degradation.Scientific reports · 2019Article
- Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.Orphanet journal of rare diseases · 2019Article
- Sarcoglycan Alpha Mitigates Neuromuscular Junction Decline in Aged Mice by Stabilizing LRP4.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Article
- Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D.Human molecular genetics · 2018Article
- Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2016Article
- Finding the sweet spot: assembly and glycosylation of the dystrophin-associated glycoprotein complex.Anatomical record (Hoboken, N.J. : 2007) · 2014Review
- Concomitant alpha- and gamma-sarcoglycan deficiencies in a Turkish boy with a novel deletion in the alpha-sarcoglycan gene.Case reports in genetics · 2014Article
- Thin, a Trim32 ortholog, is essential for myofibril stability and is required for the integrity of the costamere in Drosophila.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects.Expert reviews in molecular medicine · 2009Review
Corrections and comments
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Authors and funding
18 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sarcoglycanopathies are a genetically heterogeneous group of autosomal recessive muscular dystrophies in which the primary defect may reside in any of the genes coding for the different partners of the sarcolemmal sarcoglycan (SG) complex: the alpha-SG (LGMD2D at 17q21.2), the beta-SG (LGMD2E at 4q12), the gamma-SG (LGMD2C at 13q12), and the delta-SG (LGMD2F at 5q33). We report a series of 20 new unrelated families with 14 different mutations in the alpha-SG gene. Along with the mutations that we previously reported this brings our cohort of patients with alpha-sarcoglycanopathy to a total of 31 unrelated patients, carrying 25 different mutations. The missense mutations reside in the extracellular domain of the protein. Five of 15 missense mutations, carried by unrelated subjects on different haplotype backgrounds and of widespread geographical origins, account for 58% of the mutated chromosomes, with a striking prevalence of the R77C substitution (32%). The severity of the disease varies strikingly and correlates at least in part with the amount of residual protein and the type of mutation. The recurrent R284C substitution is associated with a benign disease course.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.