Article
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.
Journal of inherited metabolic disease - 1 Jan 2017
Oláhová Monika, Thompson Kyle, Hardy Steven A, Barbosa Inês A, Besse Arnaud, Anagnostou Maria-Eleni, White Kathryn, Davey Tracey, Simpson Michael A, Champion Michael, Enns Greg, Schelley Susan, Lightowlers Robert N, Chrzanowska-Lightowlers Zofia M A, McFarland Robert, Deshpande Charu, Bonnen Penelope E, Taylor Robert W
Abstract excerpt
Mitochondrial diseases collectively represent one of the most heterogeneous group of metabolic disorders. Symptoms can manifest at any age, presenting with isolated or multiple-organ involvement. Advances in next-generation sequencing strategies have greatly enhanced the diagnosis of patients with mitochondrial disease, particularly where a mitochondrial aetiology is strongly suspected yet OXPHOS activities in...
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