Ontology highlight
ABSTRACT:
SUBMITTER: Konarikova E
PROVIDER: S-EPMC8549882 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Koňaříková E E Marković A A Korandová Z Z Houštěk J J Mráček T T
Physiological research 20201102 6
Mitochondrial disorders manifest enormous genetic and clinical heterogeneity - they can appear at any age, present with various phenotypes affecting any organ, and display any mode of inheritance. What mitochondrial diseases do have in common, is impairment of respiratory chain activity, which is responsible for more than 90% of energy production within cells. While diagnostics of mitochondrial disorders has been accelerated by introducing Next-Generation Sequencing techniques in recent years, t ...[more]