Oculopharyngeal Weakness, Hypophrenia, Deafness, and Impaired Vision: A Novel Autosomal Dominant Myopathy with Rimmed Vacuoles

BACKGROUND: Myopathies with rimmed vacuoles are a heterogeneous group of muscle disorders with progressive muscle weakness and varied clinical manifestations but similar features in muscle biopsies. Here, we describe a novel autosomal dominant myopathy with rimmed vacuoles in a large family with 11...

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Detalles Bibliográficos
Autores principales: Chen, Ting, Lu, Xiang-Hui, Wang, Hui-Fang, Ban, Rui, Liu, Hua-Xu, Shi, Qiang, Wang, Qian, Yin, Xi, Pu, Chuan-Qiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4976568/
https://www.ncbi.nlm.nih.gov/pubmed/27453229
http://dx.doi.org/10.4103/0366-6999.186642

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4976568/
https://www.ncbi.nlm.nih.gov/pubmed/27453229
http://dx.doi.org/10.4103/0366-6999.186642

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