Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong.


Despite the advances in the understanding of the molecular basis for oculopharyngeal muscular dystrophy in the last decade, it remains an underdiagnosed disease, especially among the Chinese. In the presence of a positive family history and late-onset ptosis, dysphagia, and proximal muscle weakness (its cardinal features), we suggest that PABPN1 gene… (More)
DOI: 10.12809/hkmj133739


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