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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria.

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.[1]

References

  1. Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria. Bruno, C., Minetti, C., Shanske, S., Morreale, G., Bado, M., Cordone, G., DiMauro, S. Neurology (1998) [Pubmed]
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