MT-ATP6-associated mitochondrial disorders are associated with a heterogenous clinical spectrum

Takeaway

  • MT-ATP6 mutations are associated with a range of clinical phenotypes, from asymptomatic mutation carriers to fatal, early onset and multisystemic neurodegenerative disease with severe disability.

Why this matters

    Variants in the MT-ATP6 gene of mitochondrial DNA is associated with more than 500 cases of ATP6-associated disease; however, there have no systematic studies on the clinicogenetic spectrum of an extended cohort.