上睑下垂
肌病
眼咽肌营养不良
医学
肌肉无力
弱点
发病年龄
病理
磁共振成像
内科学
儿科
外科
放射科
疾病
作者
Theerawat Kumutpongpanich,Masashi Ogasawara,Ayami Ozaki,Hiroyuki Ishiura,Shoji Tsuji,Narihiro Minami,Shinichiro Hayashi,S. Noguchi,Aritoshi Iida,Ichizo Nishino,Madoka Mori‐Yoshimura,Yasushi Oya,Kenjiro Ono,Toshio Shimizu,Akihiro Kawata,Shun Shimohama,Keiko Toyooka,Kaoru Endo,Shuta Toru,Oga Sasaki
出处
期刊：JAMA Neurology
[American Medical Association]
日期：2021-05-28
卷期号：78 (7): 853-853
被引量：53
标识
DOI：10.1001/jamaneurol.2021.1509
摘要
This study suggests that OPDM_LRP12 is the most frequent OPDM subtype in Japan and is characterized by oculopharyngeal weakness, distal myopathy that especially affects the soleus and gastrocnemius muscles, and rimmed vacuoles in muscle biopsy.
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