MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement-Reference-Cited by-同舟云学术

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MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

Published:2019-08-29 Issue:6 Volume:138 Page:1013-1031
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

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.^ORCID

Funder

Alberta Children's Hospital Research Institute

Alberta Children’s Hospital Foundation

NINDS

NHGRI

NIH Deputy Director for Intramural Research

NIH Clinical Center

Broad Center for Mendelian Genomics

National Heart, Lung and Blood Institute

National Eye Institute

Genome Canada

Ontario Genomics Institute

Canadian Institutes of Health Research

Ontario Research Fund

Genome Alberta

Genome British Columbia

Genome Quebec

owa Wellstone Muscular Dystrophy Cooperative Research Center

Children's Hospital of Eastern Ontario Foundation

Queen Elizabeth II Graduate Scholarship

Alberta Children’s Hospital Research Institute Graduate Studentship

Natural Sciences and Engineering Research Council of Canada

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00401-019-02059-z.pdf

Reference49 articles.

1. Adle-Biassette H, Golden JA, Harding B (2017) Developmental and perinatal brain diseases. Handbook Clin Neurol 145:51–78. https://doi.org/10.1016/B978-0-12-802395-2.00006-7

2. Amati-Bonneau P, Guichet A, Olichon A, Chevrollier A, Viala F, Miot S et al (2005) OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. Ann Neurol 58:958–963. https://doi.org/10.1002/ana.20681

3. Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissiere A et al (2008) OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus’ phenotypes. Brain 131:338–351. https://doi.org/10.1093/brain/awm298

4. Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A (2015) OMIM.org: online Mendelian Inheritance in Man (OMIM(R)), an online catalog of human genes and genetic disorders. Nucleic Acids Res 43:D789–D798. https://doi.org/10.1093/nar/gku1205

5. Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J et al (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457–465

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