Article
Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.
PloS one - 1 Jan 2014
Nilsson Mats I, Macneil Lauren G, Kitaoka Yu, Alqarni Fatimah, Suri Rahul, Akhtar Mahmood, Haikalis Maria E, Dhaliwal Pavneet, Saeed Munim, Tarnopolsky Mark A
Abstract excerpt
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...
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