Article
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.
Journal of medical genetics - 1 Sept 2016
Alston Charlotte L, Howard Caoimhe, Oláhová Monika, Hardy Steven A, He Langping, Murray Philip G, O'Sullivan Siobhan, Doherty Gary, Shield Julian P H, Hargreaves Iain P, Monavari Ardeshir A, Knerr Ina, McCarthy Peter, Morris Andrew A M, Thorburn David R, Prokisch Holger, Clayton Peter E, McFarland Robert, Hughes Joanne, Crushell Ellen, Taylor Robert W
Abstract excerpt
BACKGROUND: Isolated Complex I deficiency is the most common paediatric mitochondrial disease presentation, associated with poor prognosis and high mortality. Complex I comprises 44 structural subunits with at least 10 ancillary proteins; mutations in 29 of these have so far been associated with mitochondrial disease but there are limited genotype-phenotype correlations to guide clinicians to the correct genetic...
Topics
- Child
- Child, Preschool
- Dwarfism
- Electron Transport Complex I
- Exome
- Facies
- Female
- Genetic Association Studies
- Homozygote