Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.
Accepted version
Peer-reviewed
Repository URI
Repository DOI
Change log
Authors
Abstract
Distinct clinical syndromes have been associated with pathogenic MT-ATP6 variants. In this cohort study, we identified 125 individuals (60 families) including 88 clinically affected individuals and 37 asymptomatic carriers. Thirty-one individuals presented with Leigh syndrome and 7 with neuropathy ataxia retinitis pigmentosa. The remaining 50 patients presented with variable nonsyndromic features including ataxia, neuropathy, and learning disability. We confirmed maternal inheritance in 39 families and demonstrated that tissue segregation patterns and phenotypic threshold are variant dependent. Our findings suggest that MT-ATP6-related mitochondrial DNA disease is best conceptualized as a mitochondrial disease spectrum disorder and should be routinely included in genetic ataxia and neuropathy gene panels. ANN NEUROL 2019;86:310-315.
Description
Keywords
Journal Title
Conference Name
Journal ISSN
1531-8249
Volume Title
Publisher
Publisher DOI
Rights
Sponsorship
Wellcome Trust (109915_A_15_Z)
Medical Research Council (MC_UU_00015/8)
MRC (MC_UU_00015/8)
Medical Research Council (MR/N025431/2)
Medical Research Council (MC_UU_00015/7)