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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.

Authors :
Szczałuba, K.
Rydzanicz, M.
Walczak, A.
Kosińska, J.
Jacoszek, A.
Biernacka, A.
Gasperowicz, P.
Płoski, R.
Szymańska, K.
Ciara, E.
Piekutowska‐Abramczuk, D.
Pronicka, E.
Czerska, K.
Laure‐Kamionowska, M.
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.

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