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Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease.

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第一作者: Mahmoud R,Fassad
第一单位: Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.;Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.
作者单位: Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.;Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt. [1] Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden. [2] Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.;Department of Applied Sciences, Faculty of Health & Life Sciences, Northumbria University, Newcastle upon Tyne, UK. [3] Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.;Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada. [4] NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. [5] Center for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany. [6] Centre of Epilepsy for Children and Adolescents, Hospital for Neuropediatrics and Neurological Rehabilitation, Schoen Klinik Vogtareuth, Vogtareuth, Germany. [7] Medical Treatment Center for Adults With Intellectual Disabilities and/or Severe Multiple Disabilities (MZEB), RWTH Aachen University Hospital, Aachen, Germany. [8] Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.;Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.;School of Medicine, University of Missouri Kansas City, Kansas City, Missouri, USA. [9] Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK. [10] Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Institute of Clinical Medicine, Tartu University Hospital, University of Tartu, Tartu, Estonia. [11] University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria. [12] Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany. [13] Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.;Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden. [14] Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.;NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. [15]
DOI 10.1111/cge.70011
PMID 40583167
发布时间 2025-12-07
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