Photo from wikipedia
Mitochondrial DNA (mtDNA)‐associated Leigh syndrome (LS) is characterized by maternal inheritance, and the heteroplasmic mutant load of mtDNA pathogenic variants is known to affect clinical phenotypes. Among mtDNA pathogenic variants,… Click to show full abstract
Mitochondrial DNA (mtDNA)‐associated Leigh syndrome (LS) is characterized by maternal inheritance, and the heteroplasmic mutant load of mtDNA pathogenic variants is known to affect clinical phenotypes. Among mtDNA pathogenic variants, variants of the MT‐ATP6 gene account for most of reported cases. In this report, we aimed to describe the clinical and genetic findings of MT‐ATP6‐associated LS patients diagnosed at a single tertiary institution in Korea.
Keywords:
phenotype analysis;
leigh syndrome;
associated leigh;
atp6 associated;
genotype phenotype
Journal Title: Acta Neurologica Scandinavica
Year Published: 2021
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!
Journal Title: Acta Neurologica Scandinavica
Year Published: 2021
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!