The clinical features and genetic characteristics of MT-ATP6-related mitochondrial disease: a national, observational study

The clinical features and genetic characteristics of MT-ATP6-related mitochondrial disease: a national, observational study

<strong>Importance:</strong> Mutations in the mitochondrial MT-ATP6 gene are an important cause of mitochondrial disease. Phenotypes related to these mutations include Leigh syndrome (LS), and the syndrome of neuropathy, ataxia, and retinitis pigmentosa (NARP); however, there are also re...

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Detalles Bibliográficos
Main Authors: Ng, YS, Martikainen, M, Gorman, G, Blain, A, Bugiardini, E, Bunting, A, Schaefer, A, Alston, CL, Blakely, EL, Hughes, I, Lim, A, Degoede, C, McEntagart, M, Spinty, S, Horrocks, I, Chinnery, P, Horvath, R, Nesbitt, V, Fratter, C, Poulton, J, Hanna, M, Pitceathly, R, Taylor, RW, Turnbull, D, McFarland, R
Formato: Conference item
Idioma:English
Publicado: Wiley 2019

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