Abstract：
Congenital myopathy with tremor (MYOTREM) is a recently described disorder characterized by mild myopathy and a postural and intention tremor present since early infancy. MYOTREM is associated with pathogenic variants in MYBPC1 which encodes slow myosin-binding protein C, a sarcomere protein with regulatory and structural roles. Here, we describe a family with three generations of variably affected members exhibiting a novel variant in MYBPC1 (c.656 T > C, p.Leu219Pro). Among the unique features of affected family members is the persistence of tremor in sleep. We also present the first muscle magnetic resonance images for this disorder, and report muscle atrophy and fatty infiltration.
摘要：
先天性肌病伴震颤（MYOTREM）是一种最近描述的疾病，其特征是轻度肌病以及自婴儿期以来存在的姿势性和有意性震颤。MYOTREM与MYBPC1中编码慢肌球蛋白结合蛋白C的致病变体有关，具有调节和结构作用的肌节蛋白。这里,我们描述了一个具有三代可变受影响的成员的家族，这些成员在MYBPC1中表现出新的变体（c.656T>C，p.Leu219Pro)。受影响的家庭成员的独特特征之一是睡眠中震颤的持久性。我们还展示了这种疾病的第一批肌肉磁共振图像，并报告肌肉萎缩和脂肪浸润。
