Article
Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.
Annals of human genetics - 1 Jan 2004
Martín M A, Rubio J C, Wevers R A, Van Engelen B G M, Steenbergen G C H, Van Diggelen O P, De Visser M, De Die-Smulders C, Blázquez A, Andreu A L, Arenas J
Abstract excerpt
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...
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