A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation

A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation

Abstract Background Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscular dystrophy characterised by slowly progressive ptosis, dysphagia, and proximal limb muscle weakness. A common cause of OPMD is the short expansion of a GCG or GCA trinucleotide repeat in PABPN1 gene. Case presentat...

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Bibliographic Details
Main Authors: Yo-suke Nishii, Yu-ichi Noto, Rei Yasuda, Takamasa Kitaoji, Shinji Ashida, Eijirou Tanaka, Narihiro Minami, Ichizo Nishino, Toshiki Mizuno
Format: Article
Language:English
Published: BMC 2021-07-01
Series:BMC Neurology
Subjects:
Oculopharyngeal muscular dystrophy (OPMD)
Poly(a) binding protein nuclear 1 (PABPN1)
Point mutation
Muscle ultrasound
Asian case
Online Access:https://doi.org/10.1186/s12883-021-02300-x

Internet

https://doi.org/10.1186/s12883-021-02300-x

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