肌病
医学
心肌病
袋3
肌原纤维
弱点
肌肉无力
内科学
病理
心脏病学
心力衰竭
遗传学
解剖
生物
自噬
细胞凋亡
作者
Yuichi Akaba,Ryo Takeguchi,Ryosuke Tanaka,Yoshio Makita,Takashi Kimura,Kumiko Yanagi,Tadashi Kaname,Ichizo Nishino,Satoru Takahashi
出处
期刊:Journal of Clinical Neuromuscular Disease
[Ovid Technologies (Wolters Kluwer)]
日期:2022-09-01
卷期号:24 (1): 49-54
被引量:1
标识
DOI:10.1097/cnd.0000000000000392
摘要
Myofibrillar myopathy is a clinically and genetically heterogeneous group of muscle disorders characterized by myofibrillar degeneration. Bcl-2-associated athanogene 3 (BAG3)-related myopathy is the rarest form of myofibrillar myopathy. Patients with BAG3-related myopathy present with early-onset and progressive muscle weakness, rigid spine, respiratory insufficiency, and cardiomyopathy. Notably, the heterozygous mutation (Pro209Leu) in BAG3 is commonly associated with rapidly progressive cardiomyopathy in childhood. We describe a male patient with the BAG3 (Pro209Leu) mutation. The patient presented at age 7 years with muscle weakness predominantly in the proximal lower limbs. Histologic findings revealed a mixture of severe neurogenic and myogenic changes. His motor symptoms progressed rapidly in the next decade, becoming wheelchair-dependent by age 17 years; however, at the age of 19 years, cardiomyopathy was not evident. This study reports a case of BAG3-related myopathy without cardiac involvement and further confirmed the wide phenotypic spectrum of BAG3-related myopathy.
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