Associated Papers
Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study.
Hunn SM et al.
Annals of Clinical and Translational Neurology, 2025
40237364 (PubMed )
Supplement: ACN3-12-1179-s001.pdf
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
Recurrent Rhabdomyolysis in a Medical Cadet during Military Training as a Rare Initial Presentation in Calpainopathy.
Lertsakulbunlue S et al.
Case Reports in Neurological Medicine, 2024
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
Bruels CC et al.
Annals of Clinical and Translational Neurology, 2022
The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.
Becker N et al.
Acta Neuropathologica Communications, 2022
35135626 (PubMed )
Supplement: 40478_2022_1320_MOESM1_ESM.pdf
Novel CAPN3 variant associated with an autosomal dominant calpainopathy.
Cerino M et al.
Neuropathology and Applied Neurobiology, 2020
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
Genetic variability and clinical spectrum of Chinese patients with limb-girdle muscular dystrophy type 2A.
Luo SS et al.
Muscle & Nerve, 2012
Calpainopathy-a survey of mutations and polymorphisms.
Richard I et al.
American Journal of Human Genetics, 1999
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