Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

  1. Lookup NU author(s)
  2. Dr Monika Olahova
  3. Dr Kyle Thompson
  4. Dr Charlotte Alston
  5. Professor Patrick Chinnery
  6. Professor Zofia Chrzanowska-Lightowlers
  7. Professor Robert Lightowlers
  8. Professor Robert Taylor
Author(s)Feichtinger RG, Olahova M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H
Publication type Article
JournalAmerican Journal of Human Genetics
Year2017
Volume101
Issue4
Pages525-538
ISSN (print)0002-9297
ISSN (electronic)1537-6605
Full text is available for this publication:
PublisherCell Press
URLhttps://doi.org/10.1016/j.ajhg.2017.08.015
DOI10.1016/j.ajhg.2017.08.015
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