Novel mutation in the PYGM gene resulting in McArdle disease

McArdle disease is a common metabolic disorder characterized by marked exercise intolerance, premature fatigue during exertion, myalgia, and cramps. Despite the wide knowledge of the molecular basis of McArdle disease, few studies have used a physiological approach or explored the possibility of improving the exercise capacity of these patients. Our purposes were to describe 3 unrelated patients with McArdle disease with a novel mutation in the PYGMgene and to assess the physical capacity in 1 of them.Using molecular genetic approaches, we identified the underlying molecular defect in 3 patients with McArdle disease. Physical performance was evaluated in 1 patient by means of an exercise tolerance test on a bicycle ergometer.The 3 patients showed common features of McArdle disease. They were definitively diagnosed by histochemistry, biochemistry, or molecular genetic analysis. All of the 3 patients were genetic compounds for the common Arg50Stop mutation and a novel c.13_14delCT mutation in the PYGM gene. The peak oxygen uptake (VO↓2peak) of the patient who performed the exercise test was only 20.2 mL · kg↑−1 · min↑−1. In conclusion, together with the novel mutation, there is a markedly decreased exercise capacity in a patient with McArdle disease, which could account for the profound alteration in the capacity for performing normal activities of daily living in this subpopulation.Sin financiación2.533 SJR (2006) Q1, 5/270 Neurology (clinical), 15/356 Arts and humanities (miscellaneous)UE