Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency

Author:

Olsen R. K. J.1,Pourfarzam M.2,Morris A. A. M.3,Dias R. C.4,Knudsen I.1,Andresen B. S.15,Gregersen N.1,Olpin S. E.6

Affiliation:

1. ; Research Unit for Molecular Medicine; Aarhus University Hospital and Faculty of Health Sciences; Aarhus Denmark

2. ; Department of Child Health; Royal Victoria Infirmary; Newcastle-upon-Tyne UK

3. ; Research Unit for Molecular Medicine, Skejby Sygehus; Aarhus University Hospital; DK-8200 Aarhus N Denmark. E-mail

4. ; Paediatric Department; North Tees General Hospital; Stockton UK

5. ; Institute of Human Genetics; Aarhus University; Aarhus Denmark

6. ; Chemical Pathology/Neonatal Screening and Metabolic Disease Service; Sheffield Children's Hospital; Sheffield UK

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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