Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene

We have examined two Caucasian brothers with myoadenylate deaminase (AMPD) deficiency who presented with exercise intolerance and muscle cramps. Allele-specific PCR amplification assays demonstrated that the common Q12X (C34T) and P48L (C143T) mutations were not found within their AMPD1 genes. Furth...

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Veröffentlicht in:	Molecular genetics and metabolism 2005-09, Vol.86 (1), p.250-256
Hauptverfasser:	Isackson, Paul J., Bujnicki, Heather, Harding, Cary O., Vladutiu, Georgirene D.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Alternative Splicing Amino Acid Sequence AMP Deaminase - genetics Base Sequence Compound heterozygosity DNA Exercise Humans Introns Metabolic myopathy Middle Aged Molecular Sequence Data Mutation Myoadenylate deaminase deficiency RNA, Messenger - genetics Splice site mutation
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