Int J Sports Med 2008; 29(4): 331-335
DOI: 10.1055/s-2007-965358
Clinical Sciences

© Georg Thieme Verlag KG Stuttgart · New York

AMPD1 Genotypes and Exercise Capacity in McArdle Patients

J. C. Rubio1 , 2 , M. Pérez3 , J. L. Maté-Muñoz3 , I. García-Consuegra1 , 2 , C. Chamorro-Viña3 , M. Fernández del Valle3 , A. L. Andreu2 , 4 , M. A. Martín1 , 2 , J. Arenas1 , 2 , A. Lucia3
  • 1Centro de Investigación, Hospital Universitario 12 de Octubre, Madrid, Spain
  • 2Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)
  • 3Physiology, Universidad Europea de Madrid, Madrid, Spain
  • 4Research Centre in Biochemistry and Molecular Biology, Hospital Vall d'Hebron, Barcelona, Spain
Further Information

Publication History

accepted after revision March 10, 2007

Publication Date:
09 August 2007 (online)


The purpose of this study was to assess if there exists an association between C34T muscle adenosine monophosphate deaminase (AMPD1) genotypes (i.e., normal homyzygotes [CC] vs. heterozygotes [CT]) and directly measured indices of exercise capacity (peak oxygen uptake [V·O2peak], ventilatory threshold [VT], gross mechanical efficiency [GE], etc.) in 44 Caucasian McArdle patients (23 males, 21 females). All patients performed a graded cycle ergometer test until exhaustion (for V·O2peak and VT determination) and a 12-min constant-load test at the power output eliciting the VT (for GE determination). We found no significant difference in indices of exercise capacity between CC (n = 18) and CT genotypes (n = 5) in the group of male patients (p > 0.05). In contrast, the V·O2 at the VT was significantly lower (p < 0.05) in CT (n = 4; 7.9 ± 0.4 ml/kg/min) than in CC female patients (n = 17; 11.0 ± 0.9 ml/kg/min). In summary, heterozigosity for the C34T allele of the AMPD gene is associated with reduced submaximal aerobic capacity in female patients with McArdle disease and might partly account, in this gender, for the variability that exists in the phenotypic manifestation of the disease.


Prof. Alejandro Lucia

Universidad Europea de Madrid

Villaviciosa de Odón

28670 Madrid


Phone: + 34 9 16 64 78 00

Fax: + 34 9 16 16 82 65

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