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MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.
Donkervoort, S; Sabouny, R; Yun, P; Gauquelin, L; Chao, K R; Hu, Y; Al Khatib, I; Töpf, A; Mohassel, P; Cummings, B B; Kaur, R; Saade, D; Moore, S A; Waddell, L B; Farrar, M A; Goodrich, J K; Uapinyoying, P; Chan, S H S; Javed, A; Leach, M E; Karachunski, P; Dalton, J; Medne, L; Harper, A; Thompson, C; Thiffault, I; Specht, S; Lamont, R E; Saunders, C; Racher, H; Bernier, F P; Mowat, D; Witting, N; Vissing, J; Hanson, R; Coffman, K A; Hainlen, M; Parboosingh, J S; Carnevale, A; Yoon, G; Schnur, R E; Boycott, K M; Mah, J K; Straub, V; Foley, A Reghan; Innes, A M; Bönnemann, C G; Shutt, T E.
Affiliation
  • Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Sabouny R; Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, Canada.
  • Yun P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Gauquelin L; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
  • Chao KR; Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
  • Hu Y; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA, USA.
  • Al Khatib I; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Töpf A; Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, Canada.
  • Mohassel P; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Cummings BB; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Kaur R; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA, USA.
  • Saade D; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Moore SA; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Waddell LB; Department of Pathology Carver College of Medicine, The University of Iowa, Iowa City, IA, USA.
  • Farrar MA; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
  • Goodrich JK; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, NSW 2145, Australia.
  • Uapinyoying P; Department of Neurology, Sydney Children's Hospital, Sydney, NSW, Australia.
  • Chan SHS; UNSW Sydney, School of Women's and Children's Health, Sydney, NSW, Australia.
  • Javed A; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA, USA.
  • Leach ME; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Karachunski P; Research for Genetic Medicine, Children's National Medical Center, Washington, DC, USA.
  • Dalton J; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong SAR, China.
  • Medne L; School of Biomedical Science, The University of Hong Kong, Hong Kong SAR, China.
  • Harper A; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Thompson C; Oregon Health and Science University, Neuromuscular Program, Doernbecher Children's Hospital, Portland, OR, USA.
  • Thiffault I; Department of Neurology, University of Minnesota, Minneapolis, MN, USA.
  • Specht S; Department of Neurology, University of Minnesota, Minneapolis, MN, USA.
  • Lamont RE; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, USA.
  • Saunders C; Department of Neurology, Virginia Commonwealth University, Children's Hospital of Richmond at VCU, Richmond, VA, USA.
  • Racher H; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.
  • Bernier FP; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, USA.
  • Mowat D; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, USA.
  • Witting N; University of Missouri-Kansas City School of Medicine, Kansas City, USA.
  • Vissing J; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Hanson R; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Coffman KA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, USA.
  • Hainlen M; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, USA.
  • Parboosingh JS; University of Missouri-Kansas City School of Medicine, Kansas City, USA.
  • Carnevale A; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Yoon G; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Schnur RE; UNSW Sydney, School of Women's and Children's Health, Sydney, NSW, Australia.
  • Boycott KM; Department of Neurology, University Hospital Rigshospitalet, Copenhagen, Denmark.
  • Mah JK; Department of Neurology, University Hospital Rigshospitalet, Copenhagen, Denmark.
  • Straub V; University of Missouri-Kansas City School of Medicine, Kansas City, USA.
  • Foley AR; Department of Pediatrics, Children's Mercy Hospital, Kansas City, USA.
  • Innes AM; Department of Pediatrics, Children's Mercy Hospital, Kansas City, USA.
  • Bönnemann CG; Division of Neurology, Children's Mercy Hospital, Kansas City, USA.
  • Shutt TE; Department of Pediatrics, Children's Mercy Hospital, Kansas City, USA.
Acta Neuropathol ; 138(6): 1013-1031, 2019 12.
Article in En | MEDLINE | ID: mdl-31463572
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA, Mitochondrial / Cerebellar Diseases / Cell Cycle Proteins / Mitochondrial Diseases / Cytoskeletal Proteins / Muscular Dystrophies / Mutation Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Language: En Journal: Acta Neuropathol Year: 2019 Type: Article Affiliation country: United States
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA, Mitochondrial / Cerebellar Diseases / Cell Cycle Proteins / Mitochondrial Diseases / Cytoskeletal Proteins / Muscular Dystrophies / Mutation Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Language: En Journal: Acta Neuropathol Year: 2019 Type: Article Affiliation country: United States