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Cited In for PMID: 32896923

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Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.
González-Mera L, Ravenscroft G, Cabrera-Serrano M, Ermolova N, Domínguez-González C, Arteche-López A, Soltanzadeh P, Evesson F, Navas C, Mavillard F, Clayton J, Rodrigo P, Servián-Morilla E, Cooper ST, Waddell L, Reardon K, Corbett A, Hernandez-Laín A, Sanchez A, Esteban Perez J, Paradas-Lopez C, Rivas-Infante E, Spencer M, Laing N, Olivé M. González-Mera L, et al. Neuropathol Appl Neurobiol. 2021 Feb;47(2):283-296. doi: 10.1111/nan.12663. Epub 2020 Sep 28. Neuropathol Appl Neurobiol. 2021. PMID: 32896923
French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice.
Severa G, Souvannanorath S, Tahiri I, Alimi C, Slioui A, Villa L, Salort-Campana E, Leturcq F, Streichenberger N, Krahn M, Solé G, Feasson L, Nadaj-Pakleza A, Tard C, Stojkovic T, Sacconi S, Malfatti E. Severa G, et al. Orphanet J Rare Dis. 2026 Feb 27;21(1):129. doi: 10.1186/s13023-026-04279-5. Orphanet J Rare Dis. 2026. PMID: 41761360 Free PMC article. Review.
Case report: A single novel calpain 3 gene variant associated with mild myopathy.
Massucco S, Fossa P, Fiorillo C, Faedo E, Gemelli C, Barresi R, Ripolone M, Patrone S, Gaudio A, Mandich P, Gotta F, Baratto S, Traverso M, Pisciotta L, Zaottini F, Camera M, Scarsi E, Grandis M. Massucco S, et al. Front Genet. 2024 Dec 5;15:1437859. doi: 10.3389/fgene.2024.1437859. eCollection 2024. Front Genet. 2024. PMID: 39703226 Free PMC article.
15 results