Signs and symptoms
Genes
Methods
Disclaimer
About us
Publications
Contact us
Patients
Users
Database
Login
Overview of included studies for PARK-DCTN1:
Click here for summary of patients' characteristics
Click here to show world map of all countries
Filter for
all included patients
index patients only
AAO < 50 (adjustable)
AAO >= 50 (adjustable)
females only
males only
homozygous only
heterozygous only
compound heterozygous only
homozygous and compound heterozygous
carrying
definitely pathogenic mutations
probably pathogenic mutations
possibly pathogenic mutations
c.156T>G
c.167A>G
c.200G>A
c.211G>A
c.212G>A
c.212G>C
c.214A>C
c.221A>C
c.233A>G
c.43G>A
Country
Canada
Colombia
France
Japan
New Zealand
Poland
South Korea
Taiwan
Turkey
United Kingdom
United States
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Newsway, 2010
Case report/Case series
1
n.a.
100%
46
p.Gly71Arg
: het
Farrer, 2009
Family study
23
n.a.
65%
49(+/-6)
p.Gly71Arg
: het
p.Thr72Pro
: het
p.Gly15Ser
: het
p.Gly71Ala
: het
p.Gly71Glu
: het
p.Gln74Pro
: het
Show more (+3)
« First page
‹ Previous
1
2
Show all studies on one page
© University of Lübeck. Last updated on
Dec. 2, 2020. Version: 3.5.95
MDSGene works best with JavaScript enabled. Please follow
these instructions
to activate JavaScript in your web browser.
MDSGene works best with JavaScript enabled. Please follow
these instructions
to activate JavaScript in your web browser.
