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Title:

Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.

Document type:
Article; Journal Article
Author(s):
Laugwitz, Lucia; Seibt, Annette; Herebian, Diran; Peralta, Susana; Kienzle, Imke; Buchert, Rebecca; Falb, Ruth; Gauck, Darja; Müller, Amelie; Grimmel, Mona; Beck-Woedel, Stefanie; Kern, Jan; Daliri, Karim; Katibeh, Pegah; Danhauser, Katharina; Leiz, Steffen; Alesi, Viola; Baertling, Fabian; Vasco, Gessica; Steinfeld, Robert; Wagner, Matias; Caglayan, Ahmet Okay; Gumus, Hakan; Burmeister, Margit; Mayatepek, Ertan; Martinelli, Diego; Tamhankar, Parag Mohan; Tamhankar, Vasundhara; Joset, Pascal; St...     »
Abstract:
BACKGROUND: Human coenzyme Q4 (COQ4) is essential for coenzyme Q10 (CoQ10) biosynthesis. Pathogenic variants in COQ4 cause childhood-onset neurodegeneration. We aimed to delineate the clinical spectrum and the cellular consequences of COQ4 deficiency. METHODS: Clinical course and neuroradiological findings in a large cohort of paediatric patients with COQ4 deficiency were analysed. Functional studies in patient-derived cell lines were performed. RESULTS: We characterised 44 individuals from 36 f...     »
Journal title abbreviation:
J Med Genet
Year:
2022
Journal volume:
59
Journal issue:
9
Pages contribution:
878-887
Fulltext / DOI:
doi:10.1136/jmedgenet-2021-107729
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/34656997
Print-ISSN:
0022-2593
TUM Institution:
Institut für Humangenetik
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