Familial writer’s cramp: a clinical clue for inherited coenzyme Q(10) deficiency

The spectrum of coenzyme Q(10) (CoQ(10)) deficiency syndromes comprises a variety of disorders, including a form of autosomal recessive cerebellar ataxia (ARCA2) caused by mutations in the AarF domain–containing kinase 3 gene (ADCK3). Due to the potential response to CoQ(10) supplementation, a timel...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Neurogenetics
Prif Awduron: Amprosi, Matthias, Zech, Michael, Steiger, Ruth, Nachbauer, Wolfgang, Eigentler, Andreas, Gizewski, Elke R., Guger, Michael, Indelicato, Elisabetta, Boesch, Sylvia
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer Berlin Heidelberg 2020
Pynciau:
Short Communication
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7997836/
https://ncbi.nlm.nih.gov/pubmed/32830305
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-020-00624-3
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