A case of de novo dynamin 2(DNM2)-related centronuclear myopathy with electrical but not clinical myotonia  

作　　者：Xiao Huang Xiang-Yi Liu Lu Chen A-Ping Sun Ying-Shuang Zhang Dan-Feng Zheng Yan-Feng Zhong Dong-Sheng Fan 

机构地区：[1]Department of Neurology,Peking University Third Hospital,Beijing 100191,China [2]Beijing Municipal Key Laboratory of Biomarker and Translational Research in Neurodegenerative diseases,Beijing 100191,China [3]Department of Pathology,School of Basic Medical Sciences,Peking University,Beijing 100191,China [4]Key Laboratory for Neuroscience,National Health Commission/Ministry of Education,Peking University,Beijing 100191,China

出　　处：《Chinese Medical Journal》2020年第24期3023-3024,共2页中华医学杂志（英文版）

摘　　要：To the Editor:A 39-year-old man presented with progressive limb atrophy and weakness.The patient had generalized muscular hypotonia at birth;he could not run well in elementary school.Neurologic examination revealed atrophy of the facial muscles and limited left eye adduction.In the upper limbs,the patients showed proximal muscle atrophy and weakness[Figure 1A],while in the lower extremities,the weakness was more prominent distally than proximally.Neither spontaneous or percussion myotonia nor muscle hypertrophy was observed.

关 键 词：FIGURE ELEMENTARY ion. 

分 类 号：R746[医药卫生—神经病学与精神病学]