A japanese case of oculopharyngeal muscular dystrophy (opmd) with pabpn1 c.35g > c; p.gly12ala point mutation

HIGHLIGHTS

• who: Yo-suke Nishii from the (UNIVERSITY) have published the Article: A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35Gu2009>u2009C; p.Gly12Ala point mutation, in the Journal: (JOURNAL)
• what: When the authors examine patients with elderly-onset dysphagia and limb weakness, the diagnoses of myasthenia gravis, amyotrophic lateral sclerosis, and inclusion body myositis are more common than the diagnosis of OPMD. This is the first reported Japanese case of OPMD due to PABPN1 point mutation, in which clinical features were similar to those of previous cases reported from the UK.
 



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