Journal article
Redox State and Mitochondrial Respiratory Chain Function in Skeletal Muscle of LGMD2A Patients
Abstract
BACKGROUND: Calpain-3 deficiency causes oxidative and nitrosative stress-induced damage in skeletal muscle of LGMD2A patients, but mitochondrial respiratory chain function and anti-oxidant levels have not been systematically assessed in this clinical population previously.
METHODS: We identified 14 patients with phenotypes consistent with LGMD2A and performed CAPN3 gene sequencing, CAPN3 expression/autolysis measurements, and in silico …
Authors
Nilsson MI; Macneil LG; Kitaoka Y; Alqarni F; Suri R; Akhtar M; Haikalis ME; Dhaliwal P; Saeed M; Tarnopolsky MA
Journal
PLOS ONE, Vol. 9, No. 7,
Publisher
Public Library of Science (PLoS)
DOI
10.1371/journal.pone.0102549
ISSN
1932-6203