Case Reports
doi: 10.1212/wnl.50.1.296.Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria
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- PMID:9443500
- DOI: 10.1212/wnl.50.1.296
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Case Reports
Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria
C Bruno et al. Neurology.1998 Jan.
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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.
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