GCG repeats and phenotype in oculopharyngeal muscular dystrophy

Authors
Muller, T Schroder, R Zierz, S
Citation
T. Muller et al., GCG repeats and phenotype in oculopharyngeal muscular dystrophy, MUSCLE NERV, 24(1), 2001, pp. 120-122
Citations number
10
Categorie Soggetti
da verificare
Journal title
MUSCLE & NERVE
ISSN journal
0148639X → ACNP
Volume
24
Issue
1
Year of publication
2001
Pages
120 - 122
Database
ISI
SICI code
0148-639X(200101)24:1<120:GRAPIO>2.0.ZU;2-P
Abstract
Short GCG repeat expansions in the PABP2 gene were recently shown to cause oculopharyngeal muscular dystrophy (OPMD) in French-Canadian and Italian pe digrees. We diagnosed OPMD in 16 German patients by the detection of GCG re peat expansions, confirming genetic homogeneity. Myopathic and neurogenic c hanges were found in skeletal muscle biopsies. Age of onset and severity of disease were not correlated with the number of repeats. (C) 2001 John Wile y & Sons, Inc.