Kristina Grigalionienė Birutė Burnytė Danutė Balkelienė Laima Ambrozaitytė Algirdas Utkus
10.1002/mgg3.2059
Mol Genet Genomic Med
2023 Jan;11(1):e2059.
kss kearns-sayre syndrome mitochondrial disorder single large-scale mitochondrial dna deletion syndromes
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/36181358/
Kearns-Sayre Syndrome / genetics Ophthalmoplegia, Chronic Progressive External / genetics
Kearns-Sayre Syndrome / genetics Ophthalmoplegia, Chronic Progressive External / genetics Case Reports Research Support, Non-U.S. Gov't Adult DNA, Mitochondrial / genetics Gene Deletion Humans Male Multiplex Polymerase Chain Reaction Young Adult DNA, Mitochondrial
PMC9834195
36181358
Kearns-Sayre syndrome case. Novel 5,9 kb mtDNA deletion
2023