Late‐onset muscle phosphofructokinase deficiency
- 1 June 1988
- journal article
- research article
- Published by Wolters Kluwer Health in Neurology
- Vol. 38 (6) , 956
- https://doi.org/10.1212/wnl.38.6.956
Abstract
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.This publication has 7 references indexed in Scilit:
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