ArticleNeurogenetics2008
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.
Article in Neurogenetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 39 citations in OpenAlex.
- Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features, diagnostic approaches, and biotechnological treatment methods.Journal of neuromuscular diseases · 2025Review
- RNA Mis-Splicing Effects of Noncanonical Splicing Variants in Limb-Girdle Muscular Dystrophy Type R1/2A.Neurology. Genetics · 2025Article
- Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers.Journal of cellular and molecular medicine · 2024Article
- Article
- Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions.Orphanet journal of rare diseases · 2023Article
- Experiences in the molecular genetic and histopathological evaluation of calpainopathies.Neurogenetics · 2022Article
- Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report.BMC musculoskeletal disorders · 2021Article
- Variants of CAPN3 cause limb-girdle muscular dystrophy type 2A in two Chinese families.Experimental and therapeutic medicine · 2021Article
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect.Orphanet journal of rare diseases · 2020Article
- Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.Frontiers in neurology · 2020Article
- NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.Annals of clinical and translational neurology · 2019Article
- Calcium Mechanisms in Limb-Girdle Muscular Dystrophy withInternational journal of molecular sciences · 2019Review
- Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation.Journal of neuromuscular diseases · 2019Article
- Familial association of genetic generalised epilepsy with limb-girdle muscular dystrophy through a mutation inEpilepsy & behavior case reports · 2019Article
- A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides.Annals of clinical and translational neurology · 2014Article
- Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Molecular medicine reports · 2014Review
- Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.Journal of medical genetics · 2012Article
- Transcriptional and translational effects of intronic CAPN3 gene mutations.Human mutation · 2010Article
- Calpain3 is expressed in a proteolitically active form in papillomavirus-associated urothelial tumors of the urinary bladder in cattle.PloS one · 2010Article
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder caused by mutations in the CAPN3 gene. Its definitive diagnosis is laborious, since the clinical phenotype is often similar to other types of muscular dystrophy and since the CAPN3 gene encompasses a large genomic region with more than 300 pathogenic mutations described to date. In fact, it is estimated that nearly 25% of the cases with a phenotype suggestive of LGMD2A do not have mutations in the CAPN3 gene and that, in up to 22% of the cases, only one mutation is identified. In the present work, we have characterised CAPN3 messenger RNA (mRNA) expression in peripheral blood, and we have performed a retrospective diagnostic study with 26 LGMD2A patients, sequencing a transcript of CAPN3 present in white blood cells (WBCs). The 25% of the mutations presented in this paper (7/28) act modifying pre-mRNA splicing of the CAPN3 transcript, including the first deep-intronic mutation described to date in the CAPN3 gene. Our results determine that the sequencing of CAPN3 transcripts present in WBCs could be applied as a new approach for LGMD2A diagnosis. This method improves and simplifies diagnosis, since it combines the advantages of mRNA analysis in a more accessible and rapidly regenerated tissue. However, the lack of exon 15 in the CAPN3 isoforms present in blood, and the presence of mRNA degradation make it necessary to combine mRNA and DNA analyses in some specific cases.
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