المؤلفون: Martens P; Section of Heart Failure and Transplantation Medicine (P.M., W.H.W.T., J.E.F.), Department of Cardiovascular Medicine, Heart, Vascular and Thoracic Institute, Cleveland Clinic, OH., Van Iterson EH; Section of Preventive Cardiology and Rehabilitation (E.H.V.I.), Department of Cardiovascular Medicine, Heart, Vascular and Thoracic Institute, Cleveland Clinic, OH., Tang WHW; Section of Heart Failure and Transplantation Medicine (P.M., W.H.W.T., J.E.F.), Department of Cardiovascular Medicine, Heart, Vascular and Thoracic Institute, Cleveland Clinic, OH., Finet JE; Section of Heart Failure and Transplantation Medicine (P.M., W.H.W.T., J.E.F.), Department of Cardiovascular Medicine, Heart, Vascular and Thoracic Institute, Cleveland Clinic, OH.

المصدر: Circulation. Heart failure [Circ Heart Fail] 2024 Jun; Vol. 17 (6), pp. e010807. Date of Electronic Publication: 2024 May 31.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101479941 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1941-3297 (Electronic) Linking ISSN: 19413289 NLM ISO Abbreviation: Circ Heart Fail Subsets: MEDLINE

مواضيع طبية MeSH: Mitochondrial Myopathies*/physiopathology , Mitochondrial Myopathies*/complications , Mitochondrial Myopathies*/diagnosis , Exercise Test*, Humans ; Male ; Middle Aged

المؤلفون: Carey AR; Neuro-Ophthalmology Division (ARC, NRM), Department of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland; GeneDx (HC, KA, AB, RB), Gaithersburg, Maryland; and Department of Genetic Medicine (HJV), Johns Hopkins University School of Medicine, Baltimore, Maryland., Miller NR, Cui H, Allis K, Balog A, Bai R, Vernon HJ

المصدر: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society [J Neuroophthalmol] 2024 Jun 01; Vol. 44 (2), pp. 247-252. Date of Electronic Publication: 2023 Sep 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9431308 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-5166 (Electronic) Linking ISSN: 10708022 NLM ISO Abbreviation: J Neuroophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: DNA, Mitochondrial*/genetics , Mitochondrial Myopathies*/genetics , Mitochondrial Myopathies*/diagnosis , Mitochondrial Myopathies*/complications , Muscle, Skeletal*/pathology, Humans ; Adult ; Male ; Middle Aged ; Female ; Retrospective Studies ; Adolescent ; Young Adult ; Ophthalmoplegia, Chronic Progressive External/genetics ; Ophthalmoplegia, Chronic Progressive External/diagnosis ; Ophthalmoplegia, Chronic Progressive External/complications ; Mitochondria, Muscle/genetics ; Mitochondria, Muscle/metabolism ; Sequence Deletion/genetics ; Magnetic Resonance Imaging

المؤلفون: Alici H; Faculty of Sciences, Department of Physics, Zonguldak Bulent Ecevit University, Zonguldak, Turkey., Uversky VN; Department of Molecular Medicine and USF Health Byrd Alzheimer's Research Institute, Morsani College of Medicine, University of South Florida, Tampa, FL, USA., Kang DE; School of Medicine, Department of Pathology, Case Western Reserve University, Cleveland, USA.; Louis Stokes Cleveland VA Medical Center, Cleveland, USA., Woo JA; School of Medicine, Department of Pathology, Case Western Reserve University, Cleveland, USA., Coskuner-Weber O; Molecular Biotechnology, Turkish-German University, Istanbul, Turkey.

المصدر: Journal of biomolecular structure & dynamics [J Biomol Struct Dyn] 2024 Jul; Vol. 42 (11), pp. 5607-5616. Date of Electronic Publication: 2023 Jun 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: England NLM ID: 8404176 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-0254 (Electronic) Linking ISSN: 07391102 NLM ISO Abbreviation: J Biomol Struct Dyn Subsets: MEDLINE

مواضيع طبية MeSH: Mitochondrial Proteins*/chemistry , Mitochondrial Proteins*/genetics , Molecular Dynamics Simulation* , Mutation* , Mitochondrial Myopathies*/genetics, Humans ; Protein Conformation ; Amino Acid Sequence ; Mitochondria/metabolism ; Mitochondria/genetics ; Structure-Activity Relationship ; Models, Molecular

المؤلفون: Mütze U; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Ottenberger A; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Gleich F; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Maier EM; Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany., Lindner M; Division of Pediatric Neurology, University Children's Hospital Frankfurt, Frankfurt, Germany., Husain RA; Center for Inborn Metabolic Disorders, Department of Neuropediatrics, Jena University Hospital, Jena, Germany., Palm K; Division of Endocrinology, Diabetology and Metabolic Medicine, University Children's Hospital, Magdeburg, Germany., Beblo S; Department of Women and Child Health, Hospital for Children and Adolescents, Center for Pediatric Research Leipzig (CPL), University Hospitals, University of Leipzig, Leipzig, Germany., Freisinger P; Children's Hospital Reutlingen, Klinikum am Steinenberg, Reutlingen, Germany., Santer R; University Medical Center Hamburg-Eppendorf, University Children's Hospital, Hamburg, Germany., Thimm E; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Vom Dahl S; Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Weinhold N; Department of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Center of Chronically Sick Children, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Grohmann-Held K; Department of Pediatrics and Adolescent Medicine, University Medicine Greifswald, Greifswald, Germany., Haase C; Department of Pediatrics and Adolescent Medicine, Helios Hospital Erfurt, Erfurt, Germany., Hennermann JB; Villa Metabolica, Center for Pediatric and Adolescent Medicine, Mainz University Medical Center, Mainz, Germany., Hörbe-Blindt A; Prof.-Hess Children's Hospital, Clinic Bremen Mitte, Bremen, Germany., Kamrath C; Department of General Pediatrics and Neonatology, University Hospital of Gießen and Marburg, Gießen, Germany., Marquardt I; Department of Child Neurology, Children's Hospital Oldenburg, Oldenburg, Germany., Marquardt T; Department of General Pediatrics, Metabolic Diseases, University Children's Hospital Muenster, Muenster, Germany., Behne R; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Haas D; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Spiekerkoetter U; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany., Hoffmann GF; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Garbade SF; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany., Kölker S; Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.

المصدر: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Apr; Vol. 11 (4), pp. 883-898. Date of Electronic Publication: 2024 Jan 23.

نوع المنشور: Multicenter Study; Journal Article

بيانات الدورية: Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Cardiomyopathies* , Lipid Metabolism, Inborn Errors*/diagnosis , Lipid Metabolism, Inborn Errors*/therapy , Lipid Metabolism, Inborn Errors*/metabolism , Mitochondrial Myopathies* , Mitochondrial Trifunctional Protein*/metabolism , Mitochondrial Trifunctional Protein*/deficiency , Nervous System Diseases* , Rhabdomyolysis*, Humans ; Infant, Newborn ; Fatty Acids/metabolism ; Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase/metabolism ; Infant ; Child, Preschool ; Child

SCR Disease Name: Trifunctional Protein Deficiency With Myopathy And Neuropathy

المؤلفون: Wongchaisuwat N; Casey Eye Institute, Department of Ophthalmology, Oregon Health & Science University, Portland, Oregon, USA.; Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand., Gillingham MB; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA., Yang P; Casey Eye Institute, Department of Ophthalmology, Oregon Health & Science University, Portland, Oregon, USA., Everett L; Casey Eye Institute, Department of Ophthalmology, Oregon Health & Science University, Portland, Oregon, USA.; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA., Gregor A; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA., Harding CO; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA., Sahel JA; Department of Ophthalmology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA., Nischal KK; Department of Ophthalmology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA., Scanga HL; Department of Ophthalmology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA., Black D; Division of Genetic and Genomic Medicine, University of Pittsburgh Medical Center Children's Hospital, Pittsburgh, Pennsylvania, USA., Vockley J; Division of Genetic and Genomic Medicine, University of Pittsburgh Medical Center Children's Hospital, Pittsburgh, Pennsylvania, USA., Arnold G; Division of Genetic and Genomic Medicine, University of Pittsburgh Medical Center Children's Hospital, Pittsburgh, Pennsylvania, USA., Pennesi ME; Casey Eye Institute, Department of Ophthalmology, Oregon Health & Science University, Portland, Oregon, USA.; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA.

المصدر: Ophthalmic genetics [Ophthalmic Genet] 2024 Apr; Vol. 45 (2), pp. 140-146. Date of Electronic Publication: 2024 Jan 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

مواضيع طبية MeSH: Retinal Diseases*/diagnosis , Nervous System Diseases* , Choroid Diseases* , Mitochondrial Myopathies* , Rhabdomyolysis* , Lipid Metabolism, Inborn Errors* , Cardiomyopathies*, Mitochondrial Trifunctional Protein/*deficiency, Humans ; Prospective Studies ; Retina/metabolism ; Tomography, Optical Coherence ; Fluorescein Angiography/methods

SCR Disease Name: Trifunctional Protein Deficiency With Myopathy And Neuropathy

المؤلفون: Rabinovich M; Department of Ophthalmology, University of Paris Est-Créteil, Créteil, France., Zambrowski O; Department of Ophthalmology, University of Paris Est-Créteil, Créteil, France.; Department of Ophthalmology, University hospital Necker Enfants-Malades, APHP, Paris, France.; Centre Ophtalmologique de l'Odéon, Paris, France., Miere A; Department of Ophthalmology, University of Paris Est-Créteil, Créteil, France., Bhouri R; Department of Ophthalmology, University of Paris Est-Créteil, Créteil, France., Souied E; Department of Ophthalmology, University of Paris Est-Créteil, Créteil, France.

المصدر: Ophthalmic genetics [Ophthalmic Genet] 2024 Apr; Vol. 45 (2), pp. 193-200. Date of Electronic Publication: 2023 Sep 06.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mothers* , Retinitis Pigmentosa*/diagnosis , Retinitis Pigmentosa*/genetics , Hypopituitarism* , Mitochondrial Myopathies*, Child ; Female ; Humans ; Siblings ; Ataxia/diagnosis ; Ataxia/genetics ; Mutation ; Tomography, Optical Coherence

SCR Disease Name: Neuropathy ataxia and retinitis pigmentosa; RHYNS syndrome

المؤلفون: Schwantje M; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands., Mosegaard S; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands., Knottnerus SJG; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam, the Netherlands., van Klinken JB; Core Facility Metabolomics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Wanders RJ; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam, the Netherlands., van Lenthe H; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Hermans J; Core Facility Metabolomics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., IJlst L; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam, the Netherlands., Denis SW; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Jaspers YRJ; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Core Facility Metabolomics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Fuchs SA; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands., Houtkooper RH; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences, Amsterdam, the Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands., Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam, the Netherlands., Vaz FM; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Amsterdam Gastroenterology, Endocrinology, and Metabolism, Amsterdam, the Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, the Netherlands.; Core Facility Metabolomics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.

المصدر: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2024 Feb 29; Vol. 38 (4), pp. e23478.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Federation of American Societies for Experimental Biology Country of Publication: United States NLM ID: 8804484 Publication Model: Print Cited Medium: Internet ISSN: 1530-6860 (Electronic) Linking ISSN: 08926638 NLM ISO Abbreviation: FASEB J Subsets: MEDLINE

مواضيع طبية MeSH: Lipidomics* , Mitochondrial Diseases*/diagnosis , Muscular Diseases* , Mitochondrial Myopathies* , Rhabdomyolysis* , Lipid Metabolism, Inborn Errors* , Cardiomyopathies* , Congenital Bone Marrow Failure Syndromes* , Nervous System Diseases*, Mitochondrial Trifunctional Protein/*deficiency, Humans ; Carnitine ; Cysteamine ; Lipids

SCR Disease Name: VLCAD deficiency; Trifunctional Protein Deficiency With Myopathy And Neuropathy

المؤلفون: Huang J; Department of Cardiology, Fujian Children's Hospital, Fuzhou 350011, China., Li QY; Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart, Lung, Blood Vessel Diseases, Beijing 100029, China., Ji W; Department of Cardiology, Shanghai Jiaotong University School of Medicine, Shanghai Children's Medical Center, Shanghai 200127, China., Guo XF; Department of Pediatrics, Fujian Provincial Maternity and Children's Hospital, Fuzhou 350001, China., Hu XH; Department of Cardiology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, China.

المصدر: Zhonghua xin xue guan bing za zhi [Zhonghua Xin Xue Guan Bing Za Zhi] 2024 Feb 24; Vol. 52 (2), pp. 172-179.

نوع المنشور: Review; English Abstract; Journal Article

بيانات الدورية: Publisher: Zhonghua yi xue hui Country of Publication: China NLM ID: 7910682 Publication Model: Print Cited Medium: Print ISSN: 0253-3758 (Print) Linking ISSN: 02533758 NLM ISO Abbreviation: Zhonghua Xin Xue Guan Bing Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Hypertension, Pulmonary*/genetics , COVID-19* , Kearns-Sayre Syndrome* , Mitochondrial Myopathies*, Humans ; Infant ; Male ; Mutation ; Mutation, Missense ; Genotype

SCR Disease Name: Mitochondrial cytopathy

المؤلفون: Chin HL; Division of Genetics and Metabolism, Department of Paediatrics, Khoo Teck Puat-National University Children's Medical Institute, National University Hospital, Singapore; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore., Lai PS; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore., Tay SKH; Division of Genetics and Metabolism, Department of Paediatrics, Khoo Teck Puat-National University Children's Medical Institute, National University Hospital, Singapore; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore; Division of Neurology, Department of Paediatrics, Khoo Teck Puat-National University Children's Medical Institute, National University Hospital, Singapore. Electronic address: paetaykh@nus.edu.sg.

المصدر: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics [Neurotherapeutics] 2024 Jan; Vol. 21 (1), pp. e00304. Date of Electronic Publication: 2023 Dec 19.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Experimental NeuroTherapeutics Country of Publication: United States NLM ID: 101290381 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-7479 (Electronic) Linking ISSN: 18787479 NLM ISO Abbreviation: Neurotherapeutics Subsets: MEDLINE

مواضيع طبية MeSH: Mitochondrial Myopathies*/diagnosis , Mitochondrial Myopathies*/genetics , Mitochondrial Myopathies*/therapy , Mitochondrial Diseases*/diagnosis , Mitochondrial Diseases*/genetics , Mitochondrial Diseases*/therapy, Humans ; Child ; Mitochondria ; High-Throughput Nucleotide Sequencing

المؤلفون: Di Leo V; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle NE2 4HH, U.K.; NIHR Newcastle Biomedical Research Centre, Biomedical Research Building, Campus for Ageing and Vitality, Newcastle upon Tyne NE4 5PL, U.K., Bernardino Gomes TM; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle NE2 4HH, U.K.; NIHR Newcastle Biomedical Research Centre, Biomedical Research Building, Campus for Ageing and Vitality, Newcastle upon Tyne NE4 5PL, U.K.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE2 4HH, U.K., Vincent AE; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle NE2 4HH, U.K.; NIHR Newcastle Biomedical Research Centre, Biomedical Research Building, Campus for Ageing and Vitality, Newcastle upon Tyne NE4 5PL, U.K.; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle NE2 4HH, U.K.

المصدر: The Biochemical journal [Biochem J] 2023 Nov 15; Vol. 480 (21), pp. 1767-1789.

نوع المنشور: Review; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Published by Portland Press on behalf of the Biochemical Society Country of Publication: England NLM ID: 2984726R Publication Model: Print Cited Medium: Internet ISSN: 1470-8728 (Electronic) Linking ISSN: 02646021 NLM ISO Abbreviation: Biochem J Subsets: MEDLINE

مواضيع طبية MeSH: Muscle, Skeletal*/metabolism , Mitochondrial Myopathies*/genetics , Mitochondrial Myopathies*/metabolism, Humans ; Mitochondria/metabolism ; Mitochondrial Turnover ; Biology