Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy

The question whether oculopharyngodistal myopathy (MIM 164310) is a distinc t disease entity or a variant of oculopharyngeal muscular dystrophy (MIM 16 4300) persists. To answer this question, we examined five patients with the clinical characteristics of oculopharyngodistal myopathy for GCG expansion in poly(A)-binding protein nuclear I gene (previously called poly(A)-bindi ng protein 2), the causative gene defect for oculopharyngeal muscular dystr ophy. Only one of our five patients had the significant GCG expansion. Thus , oculopharyngodistal myopathy is a genetically heterogeneous disorder, whi ch includes patients with oculopharyngeal muscular dystrophy but, for the m ost part, is different genetically from oculopharyngeal muscular dystrophy. (C) 2001 Elsevier Science B.V. All rights reserved.