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GCG Repeats and phenotype in oculopharyngeal muscular dystrophy
Author(s) -
Müller Tobias,
Schröder Rolf,
Zierz Stephan
Publication year - 2001
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/1097-4598(200101)24:1<120::aid-mus17>3.0.co;2-0
Subject(s) - oculopharyngeal muscular dystrophy , pedigree chart , muscular dystrophy , medicine , facioscapulohumeral muscular dystrophy , phenotype , genetics , gene , biology
Short GCG repeat expansions in the PABP2 gene were recently shown to cause oculopharyngeal muscular dystrophy (OPMD) in French‐Canadian and Italian pedigrees. We diagnosed OPMD in 16 German patients by the detection of GCG repeat expansions, confirming genetic homogeneity. Myopathic and neurogenic changes were found in skeletal muscle biopsies. Age of onset and severity of disease were not correlated with the number of repeats. © 2001 John Wiley & Sons, Inc. Muscle Nerve 24: 120–122, 2001.