ArticleAmerican journal of human genetics1997
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
34 citing papers in PubMed, 119 citations in OpenAlex.
- French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice.Orphanet journal of rare diseases · 2026Review
- Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features, diagnostic approaches, and biotechnological treatment methods.Journal of neuromuscular diseases · 2025Review
- Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related.Journal of neuromuscular diseases · 2025Article
- Article
- 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
- Recurrent Rhabdomyolysis in a Medical Cadet during Military Training as a Rare Initial Presentation in Calpainopathy.Case reports in neurological medicine · 2024Article
- Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India.Global medical genetics · 2022Article
- Targeting the Ubiquitin-Proteasome System in Limb-Girdle Muscular Dystrophy With CAPN3 Mutations.Frontiers in cell and developmental biology · 2022Article
- A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.Journal of neuromuscular diseases · 2022Article
- Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies.Genes · 2021Article
- Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.Molecular genetics and metabolism reports · 2020Article
- Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures.Genes · 2020Article
- European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).Journal of neurology · 2020Article
- Novel Missense CAPN3 Mutation Responsible for Adult-Onset Limb Girdle Muscular Dystrophy with Calves Hypertrophy.Journal of molecular neuroscience : MN · 2019Article
- Calcium Mechanisms in Limb-Girdle Muscular Dystrophy withInternational journal of molecular sciences · 2019Review
- Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2019Article
- Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation.Journal of neuromuscular diseases · 2019Article
- Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.Annals of clinical and translational neurology · 2018Article
- Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.Muscle & nerve · 2017Article
- Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.Muscle & nerve · 2016Article
Corrections and comments
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Authors and funding
20 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Limb-girdle muscular dystrophies (LGMDs) are a group of neuromuscular diseases presenting great clinical heterogeneity. Mutations in CANP3, the gene encoding muscle-specific calpain, were used to identify this gene as the genetic site responsible for autosomal recessive LGMD type 2A (LGMD2A; MIM 253600). Analyses of the segregation of markers flanking the LGMD2A locus and a search for CANP3 mutations were performed for 21 LGMD2 pedigrees from various origins. In addition to the 16 mutations described previously, we report 19 novel mutations. These data indicate that muscular dystrophy caused by mutations in CANP3 are found in patients from all countries examined so far and further support the wide heterogeneity of molecular defects in this rare disease.
Indexed as
Identifiers
9150160PMC1712426W1537556103What OpenQuestion holds
Registered trials
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.