Abstract
A 14-year-old boy with exercise-related myalgia and cramps had several episodes of myoglobinuria since early childhood. An episode at 2 years of age caused acute renal failure. Histochemical and biochemical analysis of muscle showed a combined defect of phosphofructokinase (PFK) and adenosine monophosphate (AMP) deaminase. DNA analysis showed that the patient was homozygous for a G-to-C substitution at codon 39 of the PFK gene (previously described in an Italian patient) and for the common mutation found in AMP deaminase deficiency.
Original language | English |
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Pages (from-to) | 296-298 |
Number of pages | 3 |
Journal | Neurology |
Volume | 50 |
Issue number | 1 |
Publication status | Published - Jan 1998 |
ASJC Scopus subject areas
- Neuroscience(all)