Familial writer’s cramp: a clinical clue for inherited coenzyme Q10 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...

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Vydané v:	Neurogenetics Ročník 22; číslo 1; s. 81 - 86
Hlavní autori:	Amprosi, Matthias, Zech, Michael, Steiger, Ruth, Nachbauer, Wolfgang, Eigentler, Andreas, Gizewski, Elke R., Guger, Michael, Indelicato, Elisabetta, Boesch, Sylvia
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	Berlin/Heidelberg Springer Berlin Heidelberg 01.03.2021 Springer Nature B.V
Predmet:	Ataxia Biomedical and Life Sciences Biomedicine Cerebellar ataxia Cerebellum Coenzyme Q10 Differential diagnosis Human Genetics Molecular Medicine Neurology Neurosciences Short Communication Supplements Magnetic resonance spectroscopy Ataxia Coenzyme Q Ubiquinone Dystonia Mitochondrial disease
ISSN:	1364-6745, 1364-6753, 1364-6753
On-line prístup:	Získať plný text
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