Original paper

Pathogenic variants in MT‐ATP6 : A United Kingdom–based mitochondrial disease cohort study

Volume: 86, Issue: 2, Pages: 310 - 315
Published: Jul 1, 2019
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...
Paper Details
Title
Pathogenic variants in MT‐ATP6 : A United Kingdom–based mitochondrial disease cohort study
Published Date
Jul 1, 2019
Volume
86
Issue
2
Pages
310 - 315
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