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Article

Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.

Clinical genetics - 1 Aug 2017

Gigante M, Diella S, Santangelo L, Trevisson E, Acosta M J, Amatruda M, Finzi G, Caridi G, Murer L, Accetturo M, Ranieri E, Ghiggeri G M, Giordano M, Grandaliano G, Salviati L, Gesualdo L

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Ataxia
Computer Simulation
DNA Mutational Analysis
Mitochondrial Diseases
Muscle Weakness
Nephrotic Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28044327
DOI: 10.1111/cge.12960

Genes

COQ2
COQ6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.PMID 28044327Read ↗

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Whole-exome sequencing reveals a novel homozygous mutation in the COQ8B gene associated with nephrotic syndrome.Semantic proximity Read ↗

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Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency.Semantic proximity Read ↗

A new era for steroid-resistant nephrotic syndrome in childhood.Semantic proximity Read ↗

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