Article
Frequency of the C34T mutation of the AMPD1 gene in world-class endurance athletes: does this mutation impair performance?
Journal of applied physiology (Bethesda, Md. : 1985) - 1 Jun 2005
Rubio Juan C, Martín Miguel A, Rabadán Manuel, Gómez-Gallego Félix, San Juan Alejandro F, Alonso Juan M, Chicharro José L, Pérez Margarita, Arenas Joaquín, Lucia Alejandro
Abstract excerpt
The C34T mutation in the gene encoding for the skeletal muscle-specific isoform of AMP deaminase (AMPD1) is a common mutation among Caucasians (i.e., one of five individuals) that can impair exercise capacity. The purpose of this study was twofold. First, we determined the frequency distribution of the C34T mutation in a group of top-level Caucasian (Spanish) male endurance athletes (cyclists and runners, n =...
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