Neurology 1988-Jun
Late-onset muscle phosphofructokinase deficiency.
केवल पंजीकृत उपयोगकर्ता ही लेखों का अनुवाद कर सकते हैं
साइन अप करने के लिए लॉग इन करें
लिंक क्लिपबोर्ड पर सहेजा गया है
कीवर्ड
सार
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.