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Do carriers of PYGM mutations have symptoms of McArdle disease?

From the Neuromuscular Research Unit, Department of Neurology, and the Copenhagen Muscle Research Center (S.T.A., J.V.); and Department of Clinical Genetics (M.D., M.S.) National University Hospital, Rigshospitalet, Copenhagen, Denmark.

Address correspondence and reprint requests to Dr. John Vissing, Department of Neurology, 2082 National University Hospital, Rigshospitalet Blegdamsvej 9, DK-2100 Copenhagen, Denmark; e-mail: vissing{at}rh.dk

The authors investigated whether carriers of single myophosphorylase gene (PYGM) mutations have symptoms of McArdle disease. They studied the oxidative capacity and lactate responses to maximal cycle exercise in eight patients with McArdle disease, seven single PYGM mutation carriers, and 11 healthy subjects. Heterozygotes had maximal oxidative capacity and peak lactate responses identical to control subjects. Thus, carriers of single PYGM mutations are not prone to develop symptoms of McArdle disease.

Supported by grants from the NOVO Nordic Foundation, the University of Copenhagen, and the Copenhagen Hospital Corporation.

Disclosure: The authors report no conflicts of interest.

Received February 8, 2006. Accepted in final form April 19, 2006.

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