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Mutations in their coding sequences result in heterogenous clinical presentations featuring mtDNA instability in affected tissues. DNA2 is a multi\u2010catalytic protein involved in the removal of single strand DNA during mtDNA replication or Long Patch Base Excision Repair pathway. We have previously described <jats:italic>DNA2<\/jats:italic> mutations in adult patients affected with familial and sporadic forms of mitochondrial myopathy. Here we describe four novel probands presenting with limb weakness associated with novel <jats:italic>DNA2<\/jats:italic> molecular defects. Biochemical assays were established to investigate the functional effects of these variants.<\/jats:p>","DOI":"10.1002\/acn3.50888","type":"journal-article","created":{"date-parts":[[2019,9,3]],"date-time":"2019-09-03T05:04:21Z","timestamp":1567487061000},"page":"1893-1899","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Novel mutations in DNA2 associated with myopathy and mtDNA instability"],"prefix":"10.1002","volume":"6","author":[{"given":"Dario","family":"Ronchi","sequence":"first","affiliation":[{"name":"Neurology Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy"},{"name":"Dino Ferrari Center Department of Pathophysiology and Transplantation University of Milan Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Changwei","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Cancer Genetics and Epigenetics Beckman Research Institute City of Hope Duarte California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonardo","family":"Caporali","sequence":"additional","affiliation":[{"name":"Istituto delle Scienze Neurologiche di Bologna UOC Clinica Neurologica Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Piga","sequence":"additional","affiliation":[{"name":"Neurology Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongzhi","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Cancer Genetics and Epigenetics Beckman Research Institute City of Hope Duarte California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Tagliavini","sequence":"additional","affiliation":[{"name":"Istituto delle Scienze Neurologiche di Bologna UOC Clinica Neurologica Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Lucia","family":"Valentino","sequence":"additional","affiliation":[{"name":"Istituto delle Scienze Neurologiche di Bologna UOC Clinica Neurologica Bologna Italy"},{"name":"Dipartimento di Scienze Biomediche e Neuromotorie (DIBINEM) Universit\u00e0 di Bologna Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa","family":"Ferr\u00f2","sequence":"additional","affiliation":[{"name":"Neurology Unit Ospedale Maggiore Crema Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Bini","sequence":"additional","affiliation":[{"name":"IRCCS \"C. 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