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The phenotype associated with mutations in this gene has not been yet established, but functional studies carried out show that its loss causes a mitochondrial alteration, both in the morphology of the mitochondrial crests and in their function. We present two cousins from an extended highly consanguineous family with developmental encephalopathy, hypotonia, nystagmus due to optic neuropathy. The likely pathogenic homozygous c.895A&gt;G (p.Lys299Glu) variant in the\n                    <jats:italic>IMMT<\/jats:italic>\n                    gene co\u2010segregates with the disease and associates altered mitochondrial cristae observed by electron microscopy.\n                  <\/jats:p>","DOI":"10.1111\/cge.14093","type":"journal-article","created":{"date-parts":[[2021,11,29]],"date-time":"2021-11-29T05:08:53Z","timestamp":1638162533000},"page":"233-241","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in\n                    <scp>\n                      <i>IMMT<\/i>\n                    <\/scp>\n                    gene"],"prefix":"10.1111","volume":"101","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6027-376X","authenticated-orcid":false,"given":"Ana Victoria","family":"Marco\u2010Hern\u00e1ndez","sequence":"first","affiliation":[{"name":"Genomics Unit, La Fe Health Research Institute Valencia Spain"},{"name":"Genetics Unit, Hospital Universitari i Polit\u00e8cnic La Fe Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"Tom\u00e1s\u2010Vila","sequence":"additional","affiliation":[{"name":"Neuropediatrics Section, Hospital Universitari i Polit\u00e8cnic La Fe Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Montoya\u2010Filardi","sequence":"additional","affiliation":[{"name":"Radiology Service, Hospital Universitari i Polit\u00e8cnic La Fe Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Honorio","family":"Barranco\u2010Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Oftalmology Service, Hospital Universitari i Polit\u00e8cnic La Fe Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Jesus","family":"Vilchez Padilla","sequence":"additional","affiliation":[{"name":"Neuromuscular Pathology Laboratory, Health Research Institute La Fe; CIBERER. 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