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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: 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
Μορφή: Journal article
Γλώσσα:English
Έκδοση: Wiley 2019

Παρόμοια τεκμήρια