Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

Elsebet Ostergaard; Woranontee Weraarpachai; Kirstine Ravn; Alfred Peter Born; Lars Jønson; Morten Duno; Flemming Wibrand; Eric A Shoubridge; John Vissing

doi:10.1136/jmedgenet-2014-102914

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Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

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Elsebet Ostergaard Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark PubMed articles Google scholar articles
Woranontee Weraarpachai Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada, Department of Biochemistry, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand PubMed articles Google scholar articles
Kirstine Ravn Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark PubMed articles Google scholar articles
Alfred Peter Born Department of Pediatrics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark PubMed articles Google scholar articles
Lars Jønson Department of Genomic Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark PubMed articles Google scholar articles
Morten Duno Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark PubMed articles Google scholar articles
Flemming Wibrand Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark PubMed articles Google scholar articles
Eric A Shoubridge Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada, PubMed articles Google scholar articles
John Vissing Department of Neurology and Neuromuscular Research Unit, University of Copenhagen, Rigshospitalet, Copenhagen, Denmark PubMed articles Google scholar articles

Correspondence to Dr Elsebet Ostergaard, Department of Clinical Genetics 4062, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, Copenhagen 2100, Denmark; elsebet.ostergaard{at}dadlnet.dk

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Citation

Ostergaard E, Weraarpachai W, Ravn K, et al

Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

Journal of Medical Genetics 2015;52:203-207.

Publication history

Received November 21, 2014
Revised December 12, 2014
Accepted December 15, 2014
First published January 20, 2015.

Online issue publication

April 27, 2016

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