Oxidative stress implication in a new phenotype of amyotrophic quadricipital syndrome with cardiac involvement due to lamin A/C mutation.

doi:10.1080/10715760601110046

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Oxidative stress implication in a new phenotype of amyotrophic quadricipital syndrome with cardiac involvement due to lamin A/C mutation.

Free radical research - 1 Apr 2007

Charniot J C, Bonnefont-Rousselot D, Marchand C, Zerhouni K, Vignat N, Peynet J, Plotkine M, Legrand A, Artigou J Y

Abstract excerpt

This study aimed at evaluating OS in an amyotrophic quadricipital syndrome with cardiac impairment in a family of 80 members with a mutation in lamin A/C gene. Twelve patients had cardiac involvement (5 cardiac and skeletal muscles impairment). OS was evaluated in blood samples (thiobarbituric acid-reactive substances (TBARS), carbonylated proteins (PCO)) 6 "affected patients" with phenotypic and genotypic...

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Oxidative stress implication in a new phenotype of amyotrophic quadricipital syndrome with cardiac involvement due to lamin A/C mutation.

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