Article

The molecular anatomy of mitochondrial disease : identification and characterisation of novel nuclear-encoded mitochondrial disease genes

2019-01-01

Abstract excerpt

Mitochondrial diseases are a group of clinically and genetically heterogeneous disorders typically associated with abnormal oxidative phosphorylation (OXPHOS). In recent years, next generation sequencing technologies have allowed for accurate genetic diagnoses of inherited mitochondrial diseases directly from patient DNA by facilitating the identification of potential candidate genetic defects in either nuclear or...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: a37eec83-3463-592d-be3d-64297f8991df
DOI: 10.17863/cam.54366

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The molecular anatomy of mitochondrial disease : identification and characterisation of novel nuclear-encoded mitochondrial disease genesDOI 10.17863/cam.54366Read

The genetics and pathology of mitochondrial disease.Semantic proximity Read

COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency.Semantic proximity Read

The clinical maze of mitochondrial neurology.Semantic proximity Read

Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease.Semantic proximity Read

Genetics of Mitochondrial Disease.Semantic proximity Read

Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification.Semantic proximity Read

Mitochondrial genetic diseasesSemantic proximity Read

Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.Semantic proximity Read

The genetics of mitochondrial disease.Semantic proximity Read

Mitochondrial medicine in the omics era.Semantic proximity Read

Genetic defects causing mitochondrial respiratory chain disorders and disease.Semantic proximity Read

The molecular basis of human complex I deficiency.Semantic proximity Read