Ontology highlight
ABSTRACT:
SUBMITTER: Alston CL
PROVIDER: S-EPMC6174280 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
Alston Charlotte L CL Heidler Juliana J Dibley Marris G MG Kremer Laura S LS Taylor Lucie S LS Fratter Carl C French Courtney E CE Glasgow Ruth I C RIC Feichtinger René G RG Delon Isabelle I Pagnamenta Alistair T AT Dolling Helen H Lemonde Hugh H Aiton Neil N Bjørnstad Alf A Henneke Lisa L Gärtner Jutta J Thiele Holger H Tauchmannova Katerina K Quaghebeur Gerardine G Houstek Josef J Sperl Wolfgang W Raymond F Lucy FL Prokisch Holger H Mayr Johannes A JA McFarland Robert R Poulton Joanna J Ryan Michael T MT Wittig Ilka I Henneke Marco M Taylor Robert W RW
American journal of human genetics 20180920 4
Isolated complex I deficiency is a common biochemical phenotype observed in pediatric mitochondrial disease and often arises as a consequence of pathogenic variants affecting one of the ∼65 genes encoding the complex I structural subunits or assembly factors. Such genetic heterogeneity means that application of next-generation sequencing technologies to undiagnosed cohorts has been a catalyst for genetic diagnosis and gene-disease associations. We describe the clinical and molecular genetic inve ...[more]