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Autor:
Christoph van Riesen, Vesna Malinova, Dorothee Mielke, Meike Bettina Göricke, Hanna J. Eisenberg, Mathias Bähr
Publikováno v:
Movement Disorders Clinical Practice
Movement disorders clinical practice 8(1), 142-144 (2021). doi:10.1002/mdc3.13076
Movement disorders clinical practice 8(1), 142-144 (2021). doi:10.1002/mdc3.13076
ADCY5 mutations cause early-onset hyperkinetic movement disorders.1 A wide range of phenotypic presentations has been described in pediatric and adult patients including delayed psychomotor development and axial hypotonia as well as generalized myocl