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September 1967

A Myopathy Due to Glycolytic Abnormality

Author Affiliations

From Toho University School of Medicine, Tokyo. Dr. Kowa's present address is the Johns Hopkins Hospital, Baltimore.

Arch Neurol. 1967;17(3):248-256. doi:10.1001/archneur.1967.00470270026004

IN 1951, McArdle1 described a case characterized by a life-long history of exercise intolerance, muscle pain and stiffness with exertion, and no lactate formation during exercise. He postulated that this disease was due to a defect in glycogen breakdown; later, in 1959, deficiency of muscle phosphorylase was proven in similar cases biochemically and histochemically.2,3

As knowledge of the various enzymes in glycolytic pathway was accumulated, the possibility of various enzymatic defects other than amylophosphorylase could well be considered. In fact, several enzyme defects including phosphoglucomutase were suspected in a case of Thompson et al,4 and an almost complete absence of phosphofructokinase in muscle was found in the patients of Tarui and his associates.5

Meanwhile, Larsson and his colleagues6 described a hereditary disease with paroxysmal myoglobinuria characterized by low physical performance with easy fatigability, dyspnea, and palpitation starting in childhood. They considered that the disease

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