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Neurology. 1988 Jun;38(6):956-60.

Late-onset muscle phosphofructokinase deficiency.

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  • 1Department of Neurology, University of Illinois College of Medicine, Chicago 60612.


A 75-year-old man had a 10-year history of slowly progressive limb weakness without cramps or myoglobinuria. Clinical, morphologic, and biochemical studies showed muscle phosphofructokinase (PFK) deficiency. Erythrocyte PFK activity in his asymptomatic daughter was 63% of normal, compatible with a carrier state. The chronic myopathic variant of muscle PFK deficiency appears to be transmitted as an autosomal recessive trait and may be due to a distinct genetic defect.

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