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Title:

Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis.

Document type:
Review; Journal Article
Author(s):
Schlieben, Lea D; Prokisch, Holger
Abstract:
Mitochondrial diseases are a genetically and phenotypically variable set of monogenic disorders. The main characteristic of mitochondrial diseases is a defective oxidative phosphorylation. Both nuclear and mitochondrial DNA encode the approximately 1500 mitochondrial proteins. Since identification of the first mitochondrial disease gene in 1988 a total of 425 genes have been associated with mitochondrial diseases. Mitochondrial dysfunctions can be caused both by pathogenic variants in the mitoch...     »
Journal title abbreviation:
Handb Clin Neurol
Year:
2023
Journal volume:
194
Pages contribution:
141-165
Fulltext / DOI:
doi:10.1016/B978-0-12-821751-1.00011-7
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/36813310
Print-ISSN:
0072-9752
TUM Institution:
Institut für Humangenetik (Prof. Winkelmann)
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