2001. Regulation of skeletal muscle ATP catabolism by AMPD1 genotype during sprint exercise in asymptomatic subjects

son. Regulation of skeletal muscle ATP catabolism by AMPD1 genotype during sprint exercise in asymptomatic subjects. J Appl Physiol 91: 258–264, 2001.—Deficiency of myoadenylate deaminase, the muscle isoform of AMP deami-nase encoded by the AMPD1 gene, is a common myopathic condition associated with alterations in skeletal muscle en-ergy metabolism. However, recent studies have demon-strated that most individuals harboring this genetic abnor-mality are asymptomatic. Therefore, 18 healthy subjects with different AMPD1 genotypes were studied during a 30-s Wingate test in order to evaluate the influence of this inher-ited defect in AMPD1 expression on skeletal muscle energy metabolism and exercise performance in the asymptomatic population. Exercise performances were similar across the AMPD1 genotypes, whereas significant differences in severa