Article
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.
American journal of human genetics - 2 Jul 2015
Reyes Aurelio, Melchionda Laura, Nasca Alessia, Carrara Franco, Lamantea Eleonora, Zanolini Alice, Lamperti Costanza, Fang Mingyan, Zhang Jianguo, Ronchi Dario, Bonato Sara, Fagiolari Gigliola, Moggio Maurizio, Ghezzi Daniele, Zeviani Massimo
Abstract excerpt
Chronic progressive external ophthalmoplegia (CPEO) is common in mitochondrial disorders and is frequently associated with multiple mtDNA deletions. The onset is typically in adulthood, and affected subjects can also present with general muscle weakness. The underlying genetic defects comprise autosomal-dominant or recessive mutations in several nuclear genes, most of which play a role in mtDNA replication....
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Blotting, Southern
- Blotting, Western
- DNA Replication
- DNA, Mitochondrial
- Female
- High-Throughput Nucleotide Sequencing