Associated Papers
Recurrent CAPN3 p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical Expressivity.
D'Este G et al.
International Journal of Molecular Sciences, 2025
Calpainopathy (limb-girdle muscular dystrophy type R1): clinical features, diagnostic approaches, and biotechnological treatment methods.
Bardakov SN et al.
Journal of Neuromuscular Diseases, 2025
The 21-base pair deletion mutant Calpain3 does not inhibit wild-type Calpain3 activity.
Maitra S et al.
Genes & Diseases, 2025
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.
Komaki S et al.
Internal Medicine (tokyo, Japan), 2024
Identification and functional characterization of a novel heterozygous splice‑site mutation in the calpain 3 gene causes rare autosomal dominant limb‑girdle muscular dystrophy.
Mao B et al.
Experimental and Therapeutic Medicine, 2024
Case report: A single novel calpain 3 gene variant associated with mild myopathy.
Massucco S et al.
Frontiers in Genetics, 2024
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J et al.
Clinical Genetics, 2023
Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies.
Nallamilli BRR et al.
Annals of Clinical and Translational Neurology, 2023
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene.
Tomforde M et al.
Neurogenetics, 2023
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.
Mroczek M et al.
Human Mutation, 2022
Experiences in the molecular genetic and histopathological evaluation of calpainopathies.
Ozyilmaz B et al.
Neurogenetics, 2022
The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.
Becker N et al.
Acta Neuropathologica Communications, 2022
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective.
Zhong H et al.
Journal of Medical Genetics, 2021
Compound heterozygous CAPN3 variants identified in a family with limb-girdle muscular dystrophy recessive 1.
Zhang C et al.
Molecular Medicine Reports, 2021
Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.
González-Mera L et al.
Neuropathology and Applied Neurobiology, 2021
Reply: Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy.
Nallamilli BRR et al.
Annals of Clinical and Translational Neurology, 2020
Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy.
Cerino M et al.
Annals of Clinical and Translational Neurology, 2020
[Calpainopathies: state of the art and therapeutic perspectives].
Malfatti E et al.
Medecine Sciences : M/s, 2020
Novel CAPN3 variant associated with an autosomal dominant calpainopathy.
Cerino M et al.
Neuropathology and Applied Neurobiology, 2020
A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity.
Vissing J et al.
Human Mutation, 2020
A hospital based epidemiological study of genetically determined muscle disease in south western Norway.
Husebye SA et al.
Neuromuscular Disorders : Nmd, 2020
Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.
Özyilmaz B et al.
Annals of Human Genetics, 2019
Severe limb-girdle muscular dystrophy 2A in two young siblings from Guinea-Bissau associated with a novel null homozygous mutation in CAPN3 gene.
Oliveira Santos M et al.
Neuromuscular Disorders : Nmd, 2018
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
Nallamilli BRR et al.
Annals of Clinical and Translational Neurology, 2018
Untangling the complexity of limb-girdle muscular dystrophies.
Liewluck T et al.
Muscle & Nerve, 2018
A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency.
Martinez-Thompson JM et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2018
Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21.
Martinez-Thompson JM et al.
Muscle & Nerve, 2018
Calpainopathy with macrophage-rich, regional inflammatory infiltrates.
Schutz PW et al.
Neuromuscular Disorders : Nmd, 2017
Human growth hormone stabilizes walking and improves strength in a patient with dominantly inherited calpainopathy.
Prahm KP et al.
Neuromuscular Disorders : Nmd, 2017
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
Vissing J et al.
Brain : a Journal of Neurology, 2016
cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.
Duno M et al.
European Journal of Human Genetics : Ejhg, 2008