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Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Hayhurst, Hannah; de Coo, Irenaeus F M; Piekutowska-Abramczuk, Dorota; Alston, Charlotte L; Sharma, Sunil; Thompson, Kyle; Rius, Rocio; He, Langping; Hopton, Sila; Ploski, Rafal; Ciara, Elzbieta; Lake, Nicole J; Compton, Alison G; Delatycki, Martin B; Verrips, Aad; Bonnen, Penelope E; Jones, Simon A; Morris, Andrew A; Shakespeare, David; Christodoulou, John; Wesol-Kucharska, Dorota; Rokicki, Dariusz; Smeets, Hubert J M; Pronicka, Ewa; Thorburn, David R; Gorman, Grainne S; McFarland, Robert; Taylor, Robert W; Ng, Yi Shiau.
Affiliation
  • Hayhurst H; Wellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
  • de Coo IFM; Department of Neurology Erasmus Medical Centre Rotterdam Netherlands.
  • Piekutowska-Abramczuk D; Department of Paediatrics, Nutrition and Metabolic Diseases The Children's Memorial Health Institute Warsaw Poland.
  • Alston CL; Department of Medical Genetics The Children's Memorial Health Institute Warsaw 04-730 Poland.
  • Sharma S; Wellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
  • Thompson K; Wellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
  • Rius R; Wellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
  • He L; Victorian Clinical Genetics Service and Murdoch Children's Research Institute Parkville Victoria 3052 Australia.
  • Hopton S; Department of Paediatrics University of Melbourne Melbourne Victoria 3052 Australia.
  • Ploski R; Wellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
  • Ciara E; Wellcome Centre for Mitochondrial Research Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom.
  • Lake NJ; Department of Medical Genetics The Children's Memorial Health Institute Warsaw 04-730 Poland.
  • Compton AG; Department of Medical Genetics The Children's Memorial Health Institute Warsaw 04-730 Poland.
  • Delatycki MB; Victorian Clinical Genetics Service and Murdoch Children's Research Institute Parkville Victoria 3052 Australia.
  • Verrips A; Department of Paediatrics University of Melbourne Melbourne Victoria 3052 Australia.
  • Bonnen PE; Victorian Clinical Genetics Service and Murdoch Children's Research Institute Parkville Victoria 3052 Australia.
  • Jones SA; Department of Paediatrics University of Melbourne Melbourne Victoria 3052 Australia.
  • Morris AA; Victorian Clinical Genetics Service and Murdoch Children's Research Institute Parkville Victoria 3052 Australia.
  • Shakespeare D; Department of Paediatrics University of Melbourne Melbourne Victoria 3052 Australia.
  • Christodoulou J; Department of Neurology Canisius Wilhelmina Hospital Nijmegen The Netherlands.
  • Wesol-Kucharska D; Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas.
  • Rokicki D; Manchester Centre for Genomic Medicine Manchester University NHS Foundation Trust Manchester Academic Health Sciences Centre Manchester UK.
  • Smeets HJM; Manchester Centre for Genomic Medicine Manchester University NHS Foundation Trust Manchester Academic Health Sciences Centre Manchester UK.
  • Pronicka E; Neuro-Rehabilitation Unit Royal Preston Hospital Preston United Kingdom.
  • Thorburn DR; Victorian Clinical Genetics Service and Murdoch Children's Research Institute Parkville Victoria 3052 Australia.
  • Gorman GS; Department of Paediatrics University of Melbourne Melbourne Victoria 3052 Australia.
  • McFarland R; Department of Clinical Genomics Research Schools GROW and MHeNS Maastricht University Maastricht The Netherlands.
  • Taylor RW; Department of Clinical Genomics Research Schools GROW and MHeNS Maastricht University Maastricht The Netherlands.
  • Ng YS; Department of Paediatrics, Nutrition and Metabolic Diseases The Children's Memorial Health Institute Warsaw Poland.
Ann Clin Transl Neurol ; 6(3): 515-524, 2019 03.
Article in En | MEDLINE | ID: mdl-30911575
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Full text: 1 Database: MEDLINE Main subject: Leigh Disease / Hydroxymethyl and Formyl Transferases / Genomic Structural Variation Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Ann Clin Transl Neurol Year: 2019 Type: Article
Fulltext
Add to My VHL
Print
XML
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Search on Google

Full text: 1 Database: MEDLINE Main subject: Leigh Disease / Hydroxymethyl and Formyl Transferases / Genomic Structural Variation Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Ann Clin Transl Neurol Year: 2019 Type: Article