Article
Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.
Orphanet journal of rare diseases - 13 Nov 2020
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
Abstract excerpt
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 biosynthesis pathway. In this report, we describe a novel presentation of the disease that includes nephropathy and...
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