Concepedia

Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2)

Emmanuel Scalais, Ronit Chafai, Rudy Van Coster, L. Bindl, C. Nuttin, Chryssa Panagiotaraki, Sara Seneca, Willy Lissens, Antònia Ribes, Caroline Geers,

European Journal of Paediatric Neurology · 2013 · 65 citations · 26 references

DOI

Concepts

References

26

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Saskia F. Heeringa, Gil Chernin, Moumita Chaki et al. · Journal of Clinical Investigation · 2011 · 394 citations · Full text

Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations

Luís C. López, Markus Schuelke, Catarina M. Quinzii et al. · The American Journal of Human Genetics · 2006 · 389 citations · Full text

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Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy.

Saburo Ogasahara, Andrew G. Engel, David B. Frens et al. · Proceedings of the National Academy of Sciences · 1989 · 368 citations · Full text

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Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency

Agnès Rötig, Eeva‐Liisa Appelkvist, Vanna Géromel et al. · The Lancet · 2000 · 357 citations

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A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency

Catarina M. Quinzii, Ali Naini, Leonardo Salviati et al. · The American Journal of Human Genetics · 2006 · 343 citations · Full text

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