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McArdle Disease and Exercise Physiology

Department of Sports Sciences, The University of Tokyo, Komaba 3-8-1, Meguro-ku, Tokyo 153-8902, Japan
Biology 2014, 3(1), 157-166;
Received: 5 February 2014 / Revised: 19 February 2014 / Accepted: 20 February 2014 / Published: 25 February 2014
(This article belongs to the Special Issue Muscle Structure and Function)
McArdle disease (glycogen storage disease Type V; MD) is a metabolic myopathy caused by a deficiency in muscle glycogen phosphorylase. Since muscle glycogen is an important fuel for muscle during exercise, this inborn error of metabolism provides a model for understanding the role of glycogen in muscle function and the compensatory adaptations that occur in response to impaired glycogenolysis. Patients with MD have exercise intolerance with symptoms including premature fatigue, myalgia, and/or muscle cramps. Despite this, MD patients are able to perform prolonged exercise as a result of the “second wind” phenomenon, owing to the improved delivery of extra-muscular fuels during exercise. The present review will cover what this disease can teach us about exercise physiology, and particularly focuses on the compensatory pathways for energy delivery to muscle in the absence of glycogenolysis. View Full-Text
Keywords: McArdle disease; skeletal muscle; metabolism McArdle disease; skeletal muscle; metabolism
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Kitaoka, Y. McArdle Disease and Exercise Physiology. Biology 2014, 3, 157-166.

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Kitaoka Y. McArdle Disease and Exercise Physiology. Biology. 2014; 3(1):157-166.

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Kitaoka, Yu. 2014. "McArdle Disease and Exercise Physiology" Biology 3, no. 1: 157-166.

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