Pathogenic variants in MT‐ATP6 : A United Kingdom–based mitochondrial disease cohort study-Reference-Cited by-同舟云学术

Pathogenic variants in MT‐ATP6 : A United Kingdom–based mitochondrial disease cohort study

Published:2019-07 Issue:2 Volume:86 Page:310-315
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol

Author:

Ng Yi Shiau¹^ORCID,Martikainen Mika H.¹²,Gorman Gráinne S.¹^ORCID,Blain Alasdair¹,Bugiardini Enrico³⁴,Bunting Apphia⁵,Schaefer Andrew M.¹,Alston Charlotte L.¹,Blakely Emma L.¹,Sharma Sunil¹,Hughes Imelda⁶,Lim Albert¹,de Goede Christian⁷,McEntagart Meriel⁸,Spinty Stefan⁹,Horrocks Iain¹⁰,Roberts Mark¹¹,Woodward Cathy E.¹²,Chinnery Patrick F.¹³¹⁴,Horvath Rita¹¹³,Nesbitt Victoria¹⁵,Fratter Carl¹⁶,Poulton Joanna⁵,Hanna Michael G.³⁴,Pitceathly Robert D. S.³⁴^ORCID,Taylor Robert W.¹,Turnbull Doug M.¹,McFarland Robert¹

Affiliation:

1. Wellcome Centre for Mitochondrial ResearchNewcastle University Newcastle upon Tyne United Kingdom

2. Faculty of MedicineUniversity of Turku, and Division of Clinical Neurosciences, Turku University Hospital Turku Finland

3. Medical Research Council Centre for Neuromuscular DiseasesUniversity College London Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery London United Kingdom

4. Department of Neuromuscular DiseasesUniversity College London Queen Square Institute of Neurology London United Kingdom

5. Nuffield Department of Obstetrics and GynaecologyUniversity of Oxford Oxford United Kingdom

6. Royal Manchester Children's HospitalCentral Manchester University Hospitals National Health Service Foundation Trust Manchester United Kingdom

7. Department of Paediatric NeurologyRoyal Preston Hospital Preston United Kingdom

8. South West Thames Regional Genetics ServiceSt. George's Hospital London United Kingdom

9. Alder Hey Children's National Health Service Foundation Trust Liverpool United Kingdom

10. Greater Glasgow and Clyde National Health Service Yorkhill Hospital Glasgow United Kingdom

11. Greater Manchester Neuroscience CentreSalford Royal National Health Service Foundation Trust, Manchester Academic Health Science Centre Salford United Kingdom

12. Neurogenetics UnitNational Hospital for Neurology and Neurosurgery London United Kingdom

13. Department of Clinical NeurosciencesUniversity of Cambridge, Cambridge Biomedical Campus Cambridge United Kingdom

14. MRC Mitochondrial Biology UnitUniversity of Cambridge Cambridge United Kingdom

15. Department of PaediatricsThe Children's Hospital Oxford United Kingdom

16. Oxford Medical Genetics LaboratoriesOxford University Hospitals National Health Service Foundation Trust Oxford United Kingdom

Funder

Biotechnology and Biological Sciences Research Council

H2020 European Research Council

Medical Research Council Canada

National Institute for Health Research

Newton Fund

Sigrid Juséliuksen Säätiö

Wellcome Trust

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.25525

Reference19 articles.

1. Heteroplasmic mtDNA mutation (T—G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high;Tatuch Y;Am J Hum Genet,1992

2. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy;Holt IJ;Am J Hum Genet,1990

3. Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

4. Adult-onset spinocerebellar ataxia syndromes due toMTATP6mutations

5. Leigh syndrome: Clinical features and biochemical and DNA abnormalities

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