A1 Refereed original research article in a scientific journal
Pathogenic Variants in MT-ATP6: A United Kingdom-Based Mitochondrial Disease Cohort Study
Authors: Yi Shiau Ng, Mika H. Martikainen, Gráinne S. Gorman, Alasdair Blain, Enrico Bugiardini, Apphia Bunting, Andrew M. Schaefer, Charlotte L. Alston, Emma L. Blakely, Sunil Sharma, Imelda Hughes, Albert Lim, Christian de Goede, Meriel McEntagart, Stefan Spinty, Iain Horrocks, Mark Roberts, Cathy E. Woodward, Patrick F. Chinnery, Rita Horvath, Victoria Nesbitt, Carl Fratter, Joanna Poulton, Michael G. Hanna, Robert D. S. Pitceathly, Robert W. Taylor, Doug M. Turnbull, Robert McFarland
Publisher: WILEY
Publication year: 2019
Journal: Annals of Neurology
Journal acronym: ANN NEUROL
Volume: 86
Issue: 2
First page : 310
Last page: 315
Number of pages: 6
ISSN: 0364-5134
eISSN: 1531-8249
DOI: https://doi.org/10.1002/ana.25525
Web address : https://onlinelibrary.wiley.com/doi/full/10.1002/ana.25525
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/41304480
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
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