The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
Nesbitt, Victoria
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
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