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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Principais autores:	Ting Chen, Xiang-Hui Lu, Hui-Fang Wang, Rui Ban, Hua-Xu Liu, Qiang Shi, Qian Wang, Xi Yin, Chuan-Qiang Pu
格式:	Artigo
語言:	Inglês
出版:	Wolters Kluwer 2016-01-01
叢編:	Chinese Medical Journal
主題:	Inclusion Body; Rimmed Vacuoles; Whole-exome Sequencing
在線閱讀:	http://www.cmj.org/article.asp?issn=0366-6999;year=2016;volume=129;issue=15;spage=1805;epage=1810;aulast=Chen
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