Article
Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease.
Current opinion in pediatrics - 1 Dec 2018
McCormick Elizabeth M, Zolkipli-Cunningham Zarazuela, Falk Marni J
Abstract excerpt
PURPOSE OF REVIEW: Primary mitochondrial disease (PMD) is a genetically and phenotypically diverse group of inherited energy deficiency disorders caused by impaired mitochondrial oxidative phosphorylation (OXPHOS) capacity. Mutations in more than 350 genes in both mitochondrial and nuclear genomes are now recognized to cause primary mitochondrial disease following every inheritance pattern. Next-generation...
Topics
- Computational Biology
- DNA, Mitochondrial
- Exome
- Genetic Association Studies
- Genetic Testing
- High-Throughput Nucleotide Sequencing
- Humans
- Mitochondrial Diseases
- Molecular Diagnostic Techniques
- Mutation