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Genomic testing is increasingly used as the first step in the diagnostic pathway for mitochondrial diseases. We used next\u2010generation sequencing followed by bioinformatic data analysis to identify potentially damaging variants in the\n                    <jats:italic>POLRMT<\/jats:italic>\n                    gene (NM_005035.4) in six new affected individuals. Structural protein analysis predicted the detrimental impact of variants on POLRMT protein structure. Patients show extended phenotypic abnormalities often presenting early in life with features including global developmental delay, cognitive impairment, short stature and muscular hypotonia. This study expands the genetic and phenotypic landscape of mitochondrial disease associated with\n                    <jats:italic>POLRMT<\/jats:italic>\n                    variants.\n                  <\/jats:p>","DOI":"10.1111\/cge.70011","type":"journal-article","created":{"date-parts":[[2025,7,13]],"date-time":"2025-07-13T12:57:08Z","timestamp":1752411428000},"page":"167-175","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Expanding the Genetic and Phenotypic Spectrum of\n                    <scp>\n                      <i>POLRMT<\/i>\n                    <\/scp>\n                    \u2010Related Mitochondrial Disease"],"prefix":"10.1111","volume":"109","author":[{"given":"Mahmoud R.","family":"Fassad","sequence":"first","affiliation":[{"name":"Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute Newcastle University  Newcastle upon Tyne UK"},{"name":"Human Genetics Department, Medical Research Institute Alexandria University  Alexandria Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian","family":"Valenzuela","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry and Cell Biology University of Gothenburg  Gothenburg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Ol\u00e1hov\u00e1","sequence":"additional","affiliation":[{"name":"Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute Newcastle University  Newcastle upon Tyne UK"},{"name":"Department of Applied Sciences, Faculty of Health &amp; Life Sciences Northumbria University  Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jack J.","family":"Collier","sequence":"additional","affiliation":[{"name":"Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute Newcastle University  Newcastle upon Tyne UK"},{"name":"Department of Neurology and Neurosurgery, Montreal Neurological Institute McGill University  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte V. Y.","family":"Knowles","sequence":"additional","affiliation":[{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders Newcastle upon Tyne Hospitals NHS Foundation Trust  Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleni","family":"Mavraki","sequence":"additional","affiliation":[{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders Newcastle upon Tyne Hospitals NHS Foundation Trust  Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5088-1369","authenticated-orcid":false,"given":"Miriam","family":"Elbracht","sequence":"additional","affiliation":[{"name":"Center for Human Genetics and Genomic Medicine, Medical Faculty RWTH Aachen University  Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nergis","family":"G\u00fczel","sequence":"additional","affiliation":[{"name":"Center for Human Genetics and Genomic Medicine, Medical Faculty RWTH Aachen University  Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Herberhold","sequence":"additional","affiliation":[{"name":"Centre of Epilepsy for Children and Adolescents, Hospital for Neuropediatrics and Neurological Rehabilitation Schoen Klinik Vogtareuth  Vogtareuth Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5642-8378","authenticated-orcid":false,"given":"Ingo","family":"Kurth","sequence":"additional","affiliation":[{"name":"Center for Human Genetics and Genomic Medicine, Medical Faculty RWTH Aachen University  Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Maier","sequence":"additional","affiliation":[{"name":"Medical Treatment Center for Adults With Intellectual Disabilities and\/or Severe Multiple Disabilities (MZEB) RWTH Aachen University Hospital  Aachen 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