Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency

BACKGROUND: Primary coenzyme Q10 deficiency is a rare disease that results in diverse and variable clinical manifestations. Nephropathy, myopathy and neurologic involvement are commonly associated, however retinopathy has also been observed with certain pathogenic variants of genes in the coenzyme Q...

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Detalles Bibliográficos
Autores principales: Abdelhakim, Aliaa H., Dharmadhikari, Avinash V., Ragi, Sara D., de Carvalho, Jose Ronaldo Lima, Xu, Christine L., Thomas, Amanda L., Buchovecky, Christie M., Mansukhani, Mahesh M., Naini, Ali B., Liao, Jun, Jobanputra, Vaidehi, Maumenee, Irene H., Tsang, Stephen H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7662744/
https://www.ncbi.nlm.nih.gov/pubmed/33187544
http://dx.doi.org/10.1186/s13023-020-01600-8

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