期刊论文

Clinical and genetic analysis of a patient with Desminopathy manifesting initially with myalgia after lower limb activity

中文

中华医学遗传学杂志

1003-9406

2024

41

1

96-100

10.3760/cma.j.cn511374­20221106-00765

湖南省卫生健康委课题(202103070437、D202303077714) 湘南学院校级科研项目(2019XJ66、2020XJ88、2021XJ100) 郴州国家可持续发展议程创新示范区建设项目(2019sfq04)。

本校为第一机构

目的探讨1例非典型症状起病的结蛋白病患者的临床特点与基因变异情况。方法选取2021年2月24日于上海市静安区中心医院神经内科就诊的1例男性结蛋白病患者为研究对象,分析患者的临床资料、实验室检查、肌肉病理、肌肉MRI特点及...展开更多 目的探讨1例非典型症状起病的结蛋白病患者的临床特点与基因变异情况。方法选取2021年2月24日于上海市静安区中心医院神经内科就诊的1例男性结蛋白病患者为研究对象,分析患者的临床资料、实验室检查、肌肉病理、肌肉MRI特点及基因变异情况。结果患者以下肢活动后肌痛起病,逐渐出现下肢不对称肌无力、肌肉萎缩,心脏检查提示房室传导阻滞和左室舒张功能减退。肌...

Objective To explore the clinical characteristics and genetic variant of a patient with desminopathy manifesting with atypical symptoms.Methods A patient who was admitted to the Department of Neurology of Jing′an District Central Hospital on February 24,2021 was selecte...MORE Objective To explore the clinical characteristics and genetic variant of a patient with desminopathy manifesting with atypical symptoms.Methods A patient who was admitted to the Department of Neurology of Jing′an District Central Hospital on February 24,2021 was selecte...