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

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

<p>Distinct clinical syndromes have been associated with pathogenic <em>MT‐ATP6</em> 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 sy...

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Huvudupphovsmän: Ng, YS, Martikainen, MH, Gorman, GS, Blain, A, Bugiardini, E, Bunting, A, Schaefer, AM, Alston, CL, Blakely, EL, Sharma, S, Hughes, I, Lim, A, Degoede, C, McEntagart, M, Spinty, S, Horrocks, I, Roberts, M, Woodward, CE, Chinnery, PF, Horvath, R, Nesbitt, V, Fratter, C, Poulton, J, Hanna, MG, Pitceathly, RDS, Taylor, RW, Turnbull, DM, McFarland, R
Materialtyp: Journal article
Språk:English
Publicerad: Wiley 2019

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