Molecular Analysis of Myophosphorylase Deficiency in Dutch Patients with McArdle's Disease |
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| Authors: | M A Martín J C Rubio R A Wevers B G M Van Engelen G C H Steenbergen O P Van Diggelen M De Visser C De Die-Smulders A Blázquez A L Andreu J Arenas |
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| Institution: | Centro de Investigación, Hospital Universitario 12 de Octubre, Madrid, Spain;Department of Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands;Department of Clinical Genetics, Rotterdam University, Rotterdam, The Netherlands;Department of Neurology, Academic Medical Centre, Amsterdam, The Netherlands;Department of Clinical Genetics, Academic Hospital, Maastricht, The Netherlands;Centre d'Investigacions en Bioquímica i Biologia Molecular, Hospitals Vall d'Hebron, Barcelona, Spain |
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| Abstract: | We report on 8 Dutch patients with McArdle's disease from 6 unrelated families. Molecular analysis revealed the presence of four previously described mutations: the common R49X mutation, the IVS14+1G>A mutation and the recently reported R269X and Y84X nonsense mutations; and two new molecular defects: a missense mutation R138W in the homozygous state in two siblings, and a frameshift mutation c.1797delT. This first genetic study of patients from The Netherlands with McArdle's disease confirms that the R49X mutation is also the most common in Dutch patients, and that there is genetic heterogeneity within this population. Moreover, our data support the hypothesis that the Y84X mutation is a relatively frequent mutation in McArdle's patients with a Central European background, and expand the already crowded map of mutations within the PYGM gene responsible for McArdle's disease. |
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