Back to Search Start Over

A common nonsense mutation results in α-actinin-3 deficiency in the general population.

Authors :
North, Kathryn N.
Yang, Nan
Wattanasirichaigoon, Duangrurdee
Mills, Michelle
Easteal, Simon
Beggs, Alan H.
Source :
Nature Genetics. Apr99, Vol. 21 Issue 4, p353. 2p.
Publication Year :
1999

Abstract

Reports on the absence of actin-binding proteins in muscle biopsies of patients with muscular dystrophy. Identification of actinin deficiency by immunocytochemistry; Determination of the frequency and ethnic distribution in the general population; Reevaluation of previous studies on the loss actinin in patients with Duchenne muscular dystrophy.

Details

Language :
English
ISSN :
10614036
Volume :
21
Issue :
4
Database :
Academic Search Index
Journal :
Nature Genetics
Publication Type :
Academic Journal
Accession number :
8815485
Full Text :
https://doi.org/10.1038/7675