Pathogenicity of two COQ7 mutations and responses to 2,4‐dihydroxybenzoate bypass treatment

Primary ubiquinone (co‐enzyme Q) deficiency results in a wide range of clinical features due to mitochondrial dysfunction. Here, we analyse and characterize two mutations in the ubiquinone biosynthetic gene COQ7. One mutation from the only previously identified patient (V141E), and one (L111P) from...

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Detalles Bibliográficos
Autores principales: Wang, Ying, Smith, Christopher, Parboosingh, Jillian S., Khan, Aneal, Innes, Micheil, Hekimi, Siegfried
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5618687/
https://www.ncbi.nlm.nih.gov/pubmed/28409910
http://dx.doi.org/10.1111/jcmm.13154

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5618687/
https://www.ncbi.nlm.nih.gov/pubmed/28409910
http://dx.doi.org/10.1111/jcmm.13154

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