ArticleJournal of medical genetics2005
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
Article in Journal of medical genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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Who cites it
49 citing papers in PubMed, 116 citations in OpenAlex.
- Correction of aberrant splicing caused by intronic CAPN3 pathogenic variants using RNA-targeted therapeutic strategies in limb-girdle muscular dystrophy type R1.Orphanet journal of rare diseases · 2026Article
- French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice.Orphanet journal of rare diseases · 2026Review
- RecurrentInternational journal of molecular sciences · 2025Article
- Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features, diagnostic approaches, and biotechnological treatment methods.Journal of neuromuscular diseases · 2025Review
- Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency.Human mutation · 2025Article
- Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders.Neurogenetics · 2024Article
- Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1.Orphanet journal of rare diseases · 2024Article
- Identification and functional characterization of a novel heterozygous splice‑site mutation in the calpain 3 gene causes rare autosomal dominant limb‑girdle muscular dystrophy.Experimental and therapeutic medicine · 2024Article
- Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.International ophthalmology · 2023Article
- Limb-Girdle Muscular Dystrophies Classification and Therapies.Journal of clinical medicine · 2023Review
- Cas9-induced single cut enables highly efficient and template-free repair of a muscular dystrophy causing founder mutation.Molecular therapy. Nucleic acids · 2023Article
- Experiences in the molecular genetic and histopathological evaluation of calpainopathies.Neurogenetics · 2022Article
- Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.American journal of medical genetics. Part A · 2022Article
- Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India.Global medical genetics · 2022Article
- Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?Journal of assisted reproduction and genetics · 2022Observational
- Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies.Experimental cell research · 2022Article
- Article
- 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
- Myocardial strain analysis using cardiac magnetic resonance in patients with calpainopathy.Orphanet journal of rare diseases · 2021Article
- Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.Journal of neuromuscular diseases · 2021Article
Corrections and comments
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Authors and funding
18 authors at 8 institutions in 3 countries.
Funding
Abstract
backgroundThe limb girdle muscular dystrophies (LGMD) are a heterogeneous group of Mendelian disorders highlighted by weakness of the pelvic and shoulder girdle muscles. Seventeen autosomal loci have been so far identified and genetic tests are mandatory to distinguish among the forms. Mutations at the calpain 3 locus (CAPN3) cause LGMD type 2A.
objectiveTo obtain unbiased information on the consequences of CAPN3 mutations. PATIENTS: 530 subjects with different grades of symptoms and 300 controls.
methodsHigh throughput denaturing HPLC analysis of DNA pools.
results141 LGMD2A cases were identified, carrying 82 different CAPN3 mutations (45 novel), along with 18 novel polymorphisms/variants. Females had a more favourable course than males. In 94% of the more severely affected patient group, the defect was also discovered in the second allele. This proves the sensitivity of the approach. CAPN3 mutations were found in 35.1% of classical LGMD phenotypes. Mutations were also found in 18.4% of atypical patients and in 12.6% of subjects with high serum creatine kinase levels.
conclusionsA non-invasive and cost-effective strategy, based on the high throughput denaturing HPLC analysis of DNA pools, was used to obtain unbiased information on the consequences of CAPN3 mutations in the largest genetic study ever undertaken. This broadens the spectrum of LGMD2A phenotypes and sets the carrier frequency at 1:103.
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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.