A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa

K Szczałuba; K Szymańska; M Rydzanicz; E Ciara; A Walczak; D Piekutowska-Abramczuk; J Kosińska; A Jacoszek; K Czerska; A Biernacka; M Laure-Kamionowska; P Gasperowicz; E Pronicka; R Płoski

doi:10.1111/cge.13133

A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa

Clin Genet. 2018 May;93(5):1107-1108. doi: 10.1111/cge.13133. Epub 2017 Dec 15.

Authors

Affiliations

¹ Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
² Department of Child Psychiatry, Medical University of Warsaw, Warsaw, Poland.
³ Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
⁴ MEDGEN Medical Centre, Warsaw, Poland.
⁵ Department of Experimental and Clinical Neuropathology, Mossakowski Medical Research Center, Polish Academy of Sciences, Warsaw, Poland.

PMID: 29243232
DOI: 10.1111/cge.13133

Abstract

Graphical summary of 'A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa' by Szczałuba et al..

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Cytoplasmic Dyneins / genetics*
Humans
Levodopa / administration & dosage*
Levodopa / adverse effects
Male
Mutation
Parkinson Disease / drug therapy*
Parkinson Disease / genetics*
Parkinson Disease / physiopathology

Substances

DYNC1H1 protein, human
Levodopa
Cytoplasmic Dyneins