Article
Molecular characterization of McArdle's disease in two large Finnish families.
Journal of the neurological sciences - 1 Jun 1999
Bruno C, Löfberg M, Tamburino L, Jänkälä H, Hadjigeorgiou G M, Andreu A L, Shanske S, Somer H, DiMauro S
Abstract excerpt
We have studied two large unrelated Finnish families with myophosphorylase deficiency (McArdle's disease). In one, we identified a new nonsense mutation at codon 540 in exon 14 of the myophosphorylase gene, changing an encoded glutamic acid to a stop codon (E540X). The second family carried a splice-junction mutation at the 5' splice site of intron 14 (1844+G-->A), previously reported in one Caucasian patient and...
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