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

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 a...

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Detalles Bibliográficos
Autores principales: Ng, Yi Shiau, Martikainen, Mika H., Gorman, Gráinne S., Blain, Alasdair, Bugiardini, Enrico, Bunting, Apphia, Schaefer, Andrew M., Alston, Charlotte L., Blakely, Emma L., Sharma, Sunil, Hughes, Imelda, Lim, Albert, de Goede, Christian, McEntagart, Meriel, Spinty, Stefan, Horrocks, Iain, Roberts, Mark, Woodward, Cathy E., Chinnery, Patrick F., Horvath, Rita, Nesbitt, Victoria, Fratter, Carl, Poulton, Joanna, Hanna, Michael G., Pitceathly, Robert D. S., Taylor, Robert W., Turnbull, Doug M., McFarland, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6771528/
https://www.ncbi.nlm.nih.gov/pubmed/31187502
http://dx.doi.org/10.1002/ana.25525

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6771528/
https://www.ncbi.nlm.nih.gov/pubmed/31187502
http://dx.doi.org/10.1002/ana.25525

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