背景:肌A型层粘连蛋白相互作用蛋白(MLIP)在成肌细胞分化和骨骼肌组织中的肌核定位中具有调节作用。它广泛表达,但在心脏中大量表达,骨骼,和平滑肌。最近,两项研究证实了一种新型肌病表型的MLIP基因中双等位基因致病变异的原因.
目的:描述MLIP相关肌病的表型谱和特征。
方法:报道一例MLIP基因双等位基因变异患者,具有临床特征,和MLIP相关肌病的组织形态学发现,并提供以前报道的12例患者的文献综述。
结果:MLIP相关性肌病以横纹肌溶解症发作为特征,轻度至中度运动引发的肌痛,轻度肌肉无力,有时以心肌病和心律异常为特征的心脏受累。
结论:本报告回顾并扩展了MLIP基因双等位基因致病变异引起的一种新型肌病的临床特征。
BACKGROUND: Muscular A-type lamin-interacting protein (MLIP) has a regulatory role in myoblast differentiation and organization of myonuclear positioning in skeletal muscle. It is ubiquitously expressed but abundantly in cardiac, skeletal, and smooth muscles. Recently, two studies confirmed the causation of biallelic pathogenic variants in the MLIP gene of a novel myopathy phenotype.
OBJECTIVE: Description of the phenotypic spectrum and features of MLIP-related myopathy.
METHODS: report a patient with biallelic variants in MLIP gene with the clinical features, and histomorphological findings of MLIP-related myopathy and provide a literature review of the previously reported 12 patients.
RESULTS: MLIP-related myopathy is characterized by episodes of rhabdomyolysis, myalgia triggered by mild to moderate exercise, mild muscle weakness, and sometimes cardiac involvement characterized by cardiomyopathy and cardiac rhythm abnormalities.
CONCLUSIONS: This report reviews and extends the clinical features of a novel myopathy caused by biallelic pathogenic variants in the MLIP gene.