Oculopharyngodistal myopathy is genetically heterogeneous and most cases are distinct from oculopharyngeal muscular dystrophy.
The question whether oculopharyngodistal myopathy (MIM 164310) is a distinct disease entity or a variant of oculopharyngeal muscular dystrophy (MIM 164300) 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 1 gene (previously called poly(A)-binding protein 2), the causative gene defect for oculopharyngeal muscular dystrophy. Only one of our five patients had the significant GCG expansion. Thus, oculopharyngodistal myopathy is a genetically heterogeneous disorder, which includes patients with oculopharyngeal muscular dystrophy but, for the most part, is different genetically from oculopharyngeal muscular dystrophy.
Minami
N
N
Department of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan. minami@ncnp.go.jp
Ikezoe
K
K
Kuroda
H
H
Nakabayashi
H
H
Satoyoshi
E
E
Nonaka
I
I
D000368:Aged; D000369:Aged, 80 and over; D003937:Diagnosis, Differential; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics*; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D039102:Poly(A)-Binding Proteins; D016601:RNA-Binding Proteins / Q000235:genetics; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
D039102:Poly(A)-Binding Proteins; D016601:RNA-Binding Proteins