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The exclusively recessive inheritance of this disorder has been recently challenged by the description of the recurrent variants, c.643_663del21 [p.(Ser215_Gly221del)] and c.598_612del15 [p.(Phe200_Leu204del)], associated with autosomal dominant inheritance. Our objective was to confirm the existence of autosomal dominant calpainopathies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Through our activity as one of the reference centres for genetic diagnosis of calpainopathies in France and the resulting collaborations through the French National Network for Rare Neuromuscular Diseases (FILNEMUS), we identified four families harbouring the same <jats:italic>CAPN3<\/jats:italic> heterozygous variant with supposedly autosomal dominant inheritance.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified a novel dominantly inherited <jats:italic>CAPN3<\/jats:italic> variant, c.1333G&gt;A [p.(Gly445Arg)] in 14 affected patients from four unrelated families. The complementary phenotypic, functional and genetic findings correlate with an autosomal dominant inheritance in these families, emphasizing the existence of this novel transmission mode for calpainopathies. The mild phenotype associated with these autosomal dominant cases widens the phenotypic spectrum of calpainopathies and should therefore be considered in clinical practice.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We confirm the existence of autosomal dominant calpainopathies as an entity beyond the cases related to the in\u2010frame deletions c.643_663del21 and c.598_612del15, with the identification of a novel dominantly inherited and well\u2010documented <jats:italic>CAPN3<\/jats:italic> missense variant, c.1333G&gt;A [p.(Gly445Arg)]. In addition to the consequences for genetic counselling, the confirmation of an autosomal dominant transmission mode for calpainopathies underlines the importance of re\u2010assessing other myopathies for which the inheritance is considered as strictly autosomal recessive.<\/jats:p><\/jats:sec>","DOI":"10.1111\/nan.12624","type":"journal-article","created":{"date-parts":[[2020,4,28]],"date-time":"2020-04-28T11:18:46Z","timestamp":1588072726000},"page":"564-578","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Novel <i>CAPN3<\/i> variant associated with an autosomal dominant calpainopathy"],"prefix":"10.1111","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4992-5157","authenticated-orcid":false,"given":"M.","family":"Cerino","sequence":"first","affiliation":[{"name":"Aix Marseille Univ Inserm, U1251-MMG, Marseille Medical Genetics Marseille France"},{"name":"APHM, H\u00f4pital Timone Enfants D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale Marseille France"},{"name":"APHM, Laboratoire de Biochimie H\u00f4pital de la Conception Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Campana\u2010Salort","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ Inserm, U1251-MMG, Marseille Medical Genetics Marseille France"},{"name":"APHM, centre de r\u00e9f\u00e9rence des maladies neuromusculaires et de la SLA CHU La Timone Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Salvi","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ Inserm, U1251-MMG, Marseille Medical Genetics Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0242-4849","authenticated-orcid":false,"given":"P.","family":"Cintas","sequence":"additional","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence de pathologie neuromusculaires H\u00f4pital Purpan CHU de Toulouse Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Renard","sequence":"additional","affiliation":[{"name":"Service de Neurologie CHU de N\u00eemes, Univ. 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