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

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...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: BMC 2020-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Coenzyme Q10
COQ2 gene
Oculorenal syndrome
Hereditary retinopathy
Online Access:http://link.springer.com/article/10.1186/s13023-020-01600-8

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http://link.springer.com/article/10.1186/s13023-020-01600-8

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