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

Abstract 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 co...

Celý popis

Podrobná bibliografie

Hlavní autoři:	Aliaa H. Abdelhakim, Avinash V. Dharmadhikari, Sara D. Ragi, Jose Ronaldo Lima de Carvalho, Christine L. Xu, Amanda L. Thomas, Christie M. Buchovecky, Mahesh M. Mansukhani, Ali B. Naini, Jun Liao, Vaidehi Jobanputra, Irene H. Maumenee, Stephen H. Tsang
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2020-11-01
Edice:	Orphanet Journal of Rare Diseases
Témata:	Coenzyme Q10 COQ2 gene Oculorenal syndrome Hereditary retinopathy
On-line přístup:	http://link.springer.com/article/10.1186/s13023-020-01600-8
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!