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Because\n                    <jats:italic>DST-b<\/jats:italic>\n                    contains all of the\n                    <jats:italic>DST-a<\/jats:italic>\n                    -encoding exons, known HSAN-VI mutations could affect both DST-a and DST-b isoforms. To investigate the specific function of DST-b in striated muscles, we generated a\n                    <jats:italic>Dst-b<\/jats:italic>\n                    -specific mutant mouse model harboring a nonsense mutation.\n                    <jats:italic>Dst-b<\/jats:italic>\n                    mutant mice exhibited late-onset protein aggregate myopathy and cardiomyopathy without neuropathy. We observed desmin aggregation, focal myofibrillar dissolution, and mitochondrial accumulation in striated muscles, which are common characteristics of myofibrillar myopathy. We also found nuclear inclusions containing p62, ubiquitin, and SUMO proteins with nuclear envelope invaginations as a unique pathological hallmark in\n                    <jats:italic>Dst-b<\/jats:italic>\n                    mutation-induced cardiomyopathy. RNA-sequencing analysis revealed changes in expression of genes responsible for cardiovascular functions. In silico analysis identified\n                    <jats:italic>DST-b<\/jats:italic>\n                    alleles with nonsense mutations in populations worldwide, suggesting that some unidentified hereditary myopathy and cardiomyopathy are caused by\n                    <jats:italic>DST-b<\/jats:italic>\n                    mutations. Here, we demonstrate that the Dst-b isoform is essential for long-term maintenance of striated muscles.\n                  <\/jats:p>","DOI":"10.7554\/elife.78419","type":"journal-article","created":{"date-parts":[[2022,7,19]],"date-time":"2022-07-19T05:15:11Z","timestamp":1658207711000},"update-policy":"https:\/\/doi.org\/10.7554\/elife.78419","source":"Crossref","is-referenced-by-count":17,"title":["Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy"],"prefix":"10.7554","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4425-5457","authenticated-orcid":true,"given":"Nozomu","family":"Yoshioka","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/04ww21r56","id-type":"ROR","asserted-by":"publisher"}],"name":"Division of Neurobiology and Anatomy, Graduate School of Medical and Dental Sciences, Niigata University","place":["Niigata, 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