The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome. [electronic resource]
- Developmental medicine and child neurology Jun 2012
- 500-6 p. digital
Publication Type: Journal Article; Review
1469-8749
10.1111/j.1469-8749.2012.04224.x doi
Adult Brain--pathology Child, Preschool Electron Transport Complex I--deficiency Female Humans Infant Infant, Newborn Leigh Disease--complications Magnetic Resonance Imaging Male Point Mutation--genetics Proline--genetics Serine--genetics