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Lookup NU author(s): Dr Samir Gupta,
Dr Jonathan Wyllie,
Emeritus Professor Doug Turnbull,
Professor Robert Taylor
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Mitochondrial respiratory chain disorders are increasingly recognized as common causes of neurological disease and can present at any time from birth through to later in adult life. Although presentation in the neonatal period is rare and few syndromes are described, an association between mitochondrial dysfunction and diaphragmatic problems presenting in the neonatal period has not previously been reported in the literature. Here we report a case series of three newborns that were ventilator-dependent with abnormal diaphragms and became acidotic when required to perform the work of breathing. All were later confirmed to have a mitochondrial respiratory chain disorder following biochemical investigations of muscle tissue, raising the possibility of a link between mitochondrial dysfunction and diaphragmatic involvement. © 2006 Informa UK Ltd.
Author(s): Gupta S, Wyllie J, Wright C, Turnbull D, Taylor R
Publication type: Article
Publication status: Published
Journal: Journal of Maternal-Fetal and Neonatal Medicine
Print publication date: 01/09/2006
ISSN (print): 1476-7058
ISSN (electronic): 1476-4954
Publisher: Informa Healthcare
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