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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Principais autores: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7662744/
https://ncbi.nlm.nih.gov/pubmed/33187544
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01600-8
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