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Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Lookup NU author(s): Dr Charlotte Alston, Dr Monika Olahova, Dr John Yarham, Dr Langping He, Professor Robert Taylor

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Author(s): Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Płoski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Vancoster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 2016

Volume: 99

Issue: 1

Pages: 217-227

Print publication date: 07/07/2016

Online publication date: 30/06/2016

Acceptance date: 18/05/2016

Date deposited: 24/08/2016

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press

URL: http://dx.doi.org/10.1016/j.ajhg.2016.05.021

DOI: 10.1016/j.ajhg.2016.05.021

PubMed id: 27374774

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