Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.

doi:10.1111/nan.12663

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Article

Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.

Neuropathology and applied neurobiology - 1 Feb 2021

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 S T, 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

Abstract excerpt

AIMS: Recessive variants in CAPN3 gene are the cause of the commonest form of autosomal recessive limb girdle muscle dystrophy. However, two distinct in-frame deletions in CAPN3 (NM_000070.3:c.643_663del21 and c.598_621del15) and more recently, Gly445Arg and Arg572Pro substitutions have been linked to autosomal dominant (AD) forms of calpainopathy. We report 21 affected individuals from seven unrelated families...

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PMID: 32896923
DOI: 10.1111/nan.12663

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