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

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 PRESENTATION: A 7...

Descripción completa

Detalles Bibliográficos
Autores principales: Nishii, Yo-suke, Noto, Yu-ichi, Yasuda, Rei, Kitaoji, Takamasa, Ashida, Shinji, Tanaka, Eijirou, Minami, Narihiro, Nishino, Ichizo, Mizuno, Toshiki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8256512/
https://www.ncbi.nlm.nih.gov/pubmed/34225694
http://dx.doi.org/10.1186/s12883-021-02300-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8256512/
https://www.ncbi.nlm.nih.gov/pubmed/34225694
http://dx.doi.org/10.1186/s12883-021-02300-x

Ejemplares similares