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

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A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features
Neuromuscular Disorders ( IF 2.7 ) Pub Date : 2020-08-01 , DOI: 10.1016/j.nmd.2020.06.008
Albert Z Lim ₁ , Grace McMacken ₂ , Francesca Rastelli ₁ , Monika Oláhová ₃ , Karen Baty ₄ , Sila Hopton ₄ , Gavin Falkous ₄ , Ana Töpf ₅ , Hanns Lochmüller ₆ , Chiara Marini-Bettolo ₅ , Robert McFarland ₇ , Robert W Taylor ₈

Affiliation

Wellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK.
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.
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.
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.
The John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.
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.
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.
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.

Highlights • This novel m.5860delTA variant in the MT-TY gene that caused mitochondrial disorder can manifest clinical features suggestive of myasthenic syndromes.• This variant has been demonstrated to be pathogenic by our histochemical, immunohistochemical and protein studies.• Muscle biopsy remains an important diagnostic investigation in the era of next generation sequencing.

中文翻译：

线粒体 MT-TY 基因中一种新型致病性二核苷酸缺失，导致肌无力样特征

亮点 • MT-TY 基因中的这种新型 m.5860delTA 变异可引起线粒体疾病，可表现出提示肌无力综合征的临床特征。• 我们的组织化学、免疫组织化学和蛋白质研究已证明该变异具有致病性。• 肌肉活检仍然是一种致病性方法。下一代测序时代的重要诊断研究。

更新日期：2020-08-01

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