Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome
Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome
About this item
Full title
Author / Creator
Publisher
London: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
London: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
BackgroundThis study investigated a girl with Leigh syndrome born to first-cousin parents of Pakistani descent with an isolated respiratory chain complex I deficiency in muscle and fibroblasts. Her early development was delayed, and from age 2 years she started losing motor abilities. Cerebral MRI showed basal ganglia lesions typical of Leigh syndr...
Alternative Titles
Full title
Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_900630738
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_900630738
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmg.2011.088856
