伴有肌病和浸润性心肌病的中性脂质贮积病，最初表现为右臂无力。
Neutral Lipid Storage Disease With Myopathy and Infiltrative Cardiomyopathy Initially Presenting as Right Arm Weakness.
作者信息
Brilliant Justin, Krogh Christopher, Chahal Diljon, Drachenberg Cinthia, Hossain Rydhwana, Ananthram Manjula, Barr Brian, Gupta Anuj, Porter Neil, Benitez R Michael
机构信息
Department of Medicine, Department of Cardiovascular Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA.
出版信息
JACC Case Rep. 2024 Dec 4;29(23):102809. doi: 10.1016/j.jaccas.2024.102809.
Abstract
Neutral lipid storage disease with myopathy is a rare genetic syndrome of abnormal intracellular lipolysis leading to lipid droplet accumulation in skeletal and cardiac muscle. Because of variability in clinical presentations, a multidisciplinary approach is essential for diagnosis and treatment.
摘要
伴有肌病的中性脂质贮积病是一种罕见的遗传综合征，其细胞内脂解异常，导致骨骼肌和心肌中脂滴蓄积。由于临床表现存在差异，多学科方法对于诊断和治疗至关重要。
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