Cargando…
The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy
OBJECTIVE: Oculopharyngeal muscular dystrophy (OPMD) is a late‐onset inherited neuromuscular disorder, with progressive ptosis and dysphagia as common manifestations. To date, OPMD has rarely been reported among East Asians. The present study summarizes the phenotypic and genotypic features of Chine...
Autores principales: | Lin, Feng, Yang, Kang, Lin, Min‐ting, Zheng, Fu‐ze, Chen, Long, Ding, Yuan‐liang, Ye, Zhi‐xian, Lin, Xin, Wang, Ning, Wang, Zhi‐qiang |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10014010/ https://www.ncbi.nlm.nih.gov/pubmed/36691350 http://dx.doi.org/10.1002/acn3.51733 |
Ejemplares similares
-
Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report()
por: Maeda, Marilia Yuri, et al.
Publicado: (2015) -
Recent Progress in Oculopharyngeal Muscular Dystrophy
por: Yamashita, Satoshi
Publicado: (2021) -
Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy
por: Richard, Pascale, et al.
Publicado: (2017) -
Dysphagia with fatal choking in oculopharyngeal muscular dystrophy: Case report
por: Chen, Andy Wei-Ge, et al.
Publicado: (2018) -
New Insights into Genotype-phenotype Correlations in Chinese Facioscapulohumeral Muscular Dystrophy: A Retrospective Analysis of 178 Patients
por: Lin, Feng, et al.
Publicado: (2015)