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  • Title: Molecular characterization of McArdle's disease in two large Finnish families.
    Author: Bruno C, Löfberg M, Tamburino L, Jänkälä H, Hadjigeorgiou GM, Andreu AL, Shanske S, Somer H, DiMauro S.
    Journal: J Neurol Sci; 1999 Jun 01; 165(2):121-5. PubMed ID: 10450796.
    Abstract:
    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 in a consanguineous Druze family. These data further enlarge the list of mutations associated with McArdle's disease and establish that McArdle's disease is genetically heterogeneous also within the Finnish population.
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