Molecular characterization of McArdle's disease in two large Finnish families

We have studied two large unrelated Finnish families with myophosphorylase deficiency (McArdle's disease). In one, we identified a new nonsense mutati on at codon 540 in exon 14 of the myophosphorylase gene, changing an encode d 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) previousl y reported in one Caucasian patient and in a consanguineous Druze family. T hese data further enlarge the list of mutations associated with McArdle's d isease and establish that McArdle's disease is genetically heterogeneous al so within the Finnish population. (C) 1999 Elsevier Science B.V. All rights reserved.