Novel LRPPRC Mutation in a Boy With Mild Leigh Syndrome, French–Canadian Type Outside of Québec

BACKGROUND: Leigh syndrome, French–Canadian type is unique to patients from a genetic isolate in the Saguenay–Lac-Saint-Jean region of Québec. It has also been recently described in 10 patients with LRPPRC mutation outside of Québec. It is an autosomal recessive genetic disorder with fatal metabolic...

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Detalles Bibliográficos
Autores principales: Han, Velda Xinying, Tan, Teresa S., Wang, Furene S., Tay, Stacey Kiat-Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680934/
https://www.ncbi.nlm.nih.gov/pubmed/29152527
http://dx.doi.org/10.1177/2329048X17737638

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680934/
https://www.ncbi.nlm.nih.gov/pubmed/29152527
http://dx.doi.org/10.1177/2329048X17737638

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