Case Report: Guitarist’s cramp as the initial manifestation of dopa-responsive dystonia with a novel heterozygous GCH1 mutation [version 1; peer review: 2 approved]
Dopa-responsive dystonia (DRD), also known as Segawa syndrome, is a phenotypically and genetically heterogeneous group of neurological disorders that typically presents as early-onset lower limb dystonia with diurnal fluctuation, and exhibits a marked, persistent response to levodopa. Heterozygous l...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
F1000 Research Ltd
2021-05-01
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| Series: | F1000Research |
| Online Access: | https://f1000research.com/articles/10-361/v1 |