One-year outcome of coenzyme Q10 supplementation in ADCK3 ataxia (ARCA2)

BACKGROUND: The recessive ataxia ARCA2 is a rare disorder characterized by Coenzyme Q10 (CoQ10) deficiency due to biallelic mutations in ADCK3 gene. Despite the pathophysiological role, available data are not univocal on clinical efficacy of CoQ10 supplementation in ARCA2. Here we described the long...

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Dades bibliogràfiques
Publicat a:Cerebellum Ataxias
Autors principals: Schirinzi, Tommaso, Favetta, Martina, Romano, Alberto, Sancesario, Andrea, Summa, Susanna, Minosse, Silvia, Zanni, Ginevra, Castelli, Enrico, Bertini, Enrico, Petrarca, Maurizio, Vasco, Gessica
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2019
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6916514/
https://ncbi.nlm.nih.gov/pubmed/31890231
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40673-019-0109-2
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