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Affected members showed adult onset asymmetric distal muscle weakness with initial involvement of ankle dorsiflexion later progressing also to proximal limb muscles.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In all 3 Spanish families, we identified a unique missense variant in the <jats:italic>ACTN2<\/jats:italic> gene cosegregating with the disease. The affected members of the Swedish family carry a different <jats:italic>ACTN2<\/jats:italic> missense variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>\n<jats:italic>ACTN2<\/jats:italic> encodes for alpha actinin2, which is highly expressed in the sarcomeric Z\u2010disk with a major structural and functional role. Actininopathy is thus a new genetically determined distal myopathy. <jats:bold>ANN NEUROL 2019;85:899\u2013906.<\/jats:bold><\/jats:p><\/jats:sec>","DOI":"10.1002\/ana.25470","type":"journal-article","created":{"date-parts":[[2019,3,22]],"date-time":"2019-03-22T12:01:33Z","timestamp":1553256093000},"page":"899-906","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":37,"title":["Actininopathy: A new muscular dystrophy caused by <i>ACTN2<\/i> dominant mutations"],"prefix":"10.1002","volume":"85","author":[{"given":"Marco","family":"Savarese","sequence":"first","affiliation":[{"name":"Folkh\u00e4lsan Research Center  Helsinki Finland"},{"name":"Medicum University of Helsinki  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Palmio","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Center Tampere University Hospital and Tampere University  Tampere 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