Journal article icon

Journal article

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.

Abstract:

An isolated defect of respiratory chain complex I activity is a frequent biochemical abnormality in mitochondrial disorders. Despite intensive investigation in recent years, in most instances, the molecular basis underpinning complex I defects remains unknown. We report whole-exome sequencing of a single individual with severe, isolated complex I deficiency. This analysis, followed by filtering with a prioritization of mitochondrial proteins, led us to identify compound heterozygous mutations...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1038/ng.706

Authors


Expand authors...
Journal:
Nature genetics
Volume:
42
Issue:
12
Pages:
1131-1134
Publication date:
2010-12-05
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
URN:
uuid:03fdd482-6107-48b8-888b-c999ac96f82e
Source identifiers:
248375
Local pid:
pubs:248375

Terms of use


Metrics


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP