| Autor: |
Danon, Moris J., Servidei, Serenella, DiMauro, Salvatore, Vora, Shobhana |
| Zdroj: |
Neurology (Ovid); June 1988, Vol. 38 Issue: 6 p956-960, 5p |
| Abstrakt: |
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. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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