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A <italic>de novo</italic> loss‐of‐function <italic>DYNC1H1</italic> mutation in a patient with parkinsonian features and a favourable response to levodopa.
- Source :
- Clinical Genetics; May2018, Vol. 93 Issue 5, p1107-1108, 3p, 1 Graph
- Publication Year :
- 2018
-
Abstract
- The article presents a case study of a 20-year-old man with parkinsonism who began to experience neurodevelopmental abnormalities after his first year. It reports about the phenotypes of the loss-of-function de novo mutation of the DYNC1H1 gene. It also states the use and positive response of levodopa-carbidopa for treating the disorders.
- Subjects :
- GENETIC mutation
PARKINSONIAN disorders
DOPA
CARBIDOPA
THERAPEUTICS
Subjects
Details
- Language :
- English
- ISSN :
- 00099163
- Volume :
- 93
- Issue :
- 5
- Database :
- Complementary Index
- Journal :
- Clinical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 129077670
- Full Text :
- https://doi.org/10.1111/cge.13133