Article
Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'.
Archives of disease in childhood - 1 Nov 1994
Fryer A, Appleton R, Sweeney M G, Rosenbloom L, Harding A E
Abstract excerpt
The mitochondrial DNA (mtDNA) mutation 8993 is an important cause of Leigh's encephalopathy. A family is reported where other affected members have presented with non-specific delayed development or cerebral palsy. The diagnosis should be considered not only in children with Leigh's encephalopathy, but also in those with mild neurological dysfunction (including cerebral palsy) if there is a pigmentary retinopathy...
Topics
- Adolescent
- Adult
- Cerebral Palsy
- Child
- Child, Preschool
- DNA, Mitochondrial
- Developmental Disabilities
- Female
- Humans
- Infant
- Intellectual Disability