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.
journal_name
Neurologyjournal_title
Neurologyauthors
Bruno C,Minetti C,Shanske S,Morreale G,Bado M,Cordone G,DiMauro Sdoi
10.1212/wnl.50.1.296subject
Has Abstractpub_date
1998-01-01 00:00:00pages
296-8issue
1eissn
0028-3878issn
1526-632Xjournal_volume
50pub_type
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