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Titel:

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

Dokumenttyp:
Article; Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Amprosi, Matthias; Zech, Michael; Steiger, Ruth; Nachbauer, Wolfgang; Eigentler, Andreas; Gizewski, Elke R; Guger, Michael; Indelicato, Elisabetta; Boesch, Sylvia
Abstract:
The spectrum of coenzyme Q10 (CoQ10) 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 CoQ10 supplementation, a timely diagnosis is crucial. Herein, we describe two siblings with a novel homozygous ADCK3 variant and an unusual presentation consisting of isolated writer's cramp with adult-onset. Cerebellar ataxia developed...     »
Zeitschriftentitel:
Neurogenetics
Jahr:
2021
Band / Volume:
22
Heft / Issue:
1
Seitenangaben Beitrag:
81-86
Volltext / DOI:
doi:10.1007/s10048-020-00624-3
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/32830305
Print-ISSN:
1364-6745
TUM Einrichtung:
Institut für Humangenetik; Lehrstuhl für Neurogenetik (Prof. Winkelmann)
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