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A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features.

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作者单位: Wellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK. [1] The John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK; Department of Neurosciences, Royal Victoria Hospital, Belfast Health and Social Care Trust, Belfast, UK. [2] Wellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK. [3] Wellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne, UK. [4] The John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK. [5] Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain; Research Institute, Children's Hospital of Eastern Ontario, Ottawa, Canada; Division of Neurology, Department of Medicine, Ottawa University, Ottawa, Canada. [6] Wellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom. Electronic address: robert.mcfarland@ncl.ac.uk. [7] Wellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne, UK; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom. [8]
DOI 10.1016/j.nmd.2020.06.008
PMID 32684384
发布时间 2024-03-30
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Neuromuscular disorders : NMD

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