Infantile cardioencephalopathy due to a COX15 gene defect: report and review. [electronic resource]
- American journal of medical genetics. Part A Apr 2011
- 840-4 p. digital
Publication Type: Case Reports; Journal Article; Review
1552-4833
10.1002/ajmg.a.33881 doi
Brain--pathology Brain Diseases, Metabolic, Inborn--diagnosis Cytochrome-c Oxidase Deficiency--diagnosis Electron Transport Chain Complex Proteins--metabolism Electron Transport Complex IV--genetics Female Heart Diseases--diagnosis Humans Infant, Newborn Magnetic Resonance Imaging Mutation--genetics Myocardium--pathology