Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation

Erstveröffentlichung
2011Authors
Synofzik, Matthis
Schicks, Julia
Lindig, Tobias
Biskup, Saskia
Schmidt, Thorsten
Wissenschaftlicher Artikel
Published in
Journal of Medical Genetics ; 48 (2011), 10. - S. 713-715. - ISSN 0022-2593
Link to publication
https://dx.doi.org/10.1136/jmg.2011.090282Institutions
UKU. Klinik für NeurologieNeurophysiologie
Subject headings
[Free subject headings]: spinal-cord involvement | brain-stem | leukoencephalopathy | lactate[DDC subject group]: DDC 610 / Medicine & health