ArticleMuscle & nerve2018
Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21.
Article in Muscle & nerve, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 43 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
- Recent insights into limb-girdle muscular dystrophy: Impacts, therapy, and challenges.Histology and histopathology · 2025Review
- RecurrentInternational journal of molecular sciences · 2025Article
- Zebrafish as a Model Organism for Research in Rare Genetic Neuromuscular Diseases.International journal of molecular sciences · 2025Review
- The 21-base pair deletion mutant Calpain3 does not inhibit wild-type Calpain3 activity.Genes & diseases · 2025Article
- Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency.Human mutation · 2025Article
- Autosomal Dominant Calpainopathy in a Diabetic Patient Complicated by Functional Gitelman Syndrome.Case reports in medicine · 2025Article
- A Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a De Novo Pathogenic Variant of c.1333G>A and a Novel Variant of c.1331C>T in CAPN3.Internal medicine (Tokyo, Japan) · 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
- Case report: A single novel calpain 3 gene variant associated with mild myopathy.Frontiers in genetics · 2024Article
- Novel mutations in theFrontiers in genetics · 2023Article
- Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India.Global medical genetics · 2022Article
- The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.Acta neuropathologica communications · 2022Article
- An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia.Muscle & nerve · 2022Article
- A Journey with LGMD: From Protein Abnormalities to Patient Impact.The protein journal · 2021Review
- Compound heterozygousMolecular medicine reports · 2021Article
- Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb-Girdle Muscular Dystrophy Patients.Frontiers in neuroscience · 2021Article
- Reply: Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy.Annals of clinical and translational neurology · 2020Article
- Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.Molecular genetics and metabolism reports · 2020Article
- Physiological aspects of muscular adaptations to training translated to neuromuscular diseases.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2019Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
introductionA calpain-3 (CAPN3) gene heterozygous deletion (c.643_663del21) was recently linked to autosomal dominant (AD) limb-girdle muscular dystrophy. However, the possibility of digenic disease was raised. We describe 3 families with AD calpainopathy carrying this isolated mutation.
methodsProbands heterozygous for CAPN3 c.643_663del21 were identified by targeted next generation or whole exome sequencing. Clinical findings were collected for probands and families. Calpain-3 muscle Western blots were performed in 3 unrelated individuals.
resultsProbands reported variable weakness in their 40s or 50s, with myalgia, back pain, or hyperlordosis. Pelvic girdle muscles were affected with adductor and hamstring sparing. Creatine kinase was normal to 1,800 U/L, independent of weakness severity. Imaging demonstrated lumbar paraspinal muscle atrophy. Electromyographic findings and muscle biopsies were normal to mildly myopathic. Muscle calpain-3 expression was reduced. DISCUSSION: This study provides further evidence for AD calpainopathy associated with CAPN3 c.643_663del21. No pathogenic variants in other genes known to cause myopathy were detected. Muscle Nerve 57: 679-683, 2018.
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