Myofibrillar Myopathy: Clinico-Genetic Spectrum From a Neuromuscular Center in South India [0.03%]
南印度神经肌肉中心的肌丝肌病的临床遗传谱系分析
Abel Thomas Oommen,Dipti Baskar,Kiran Polavarapu et al.
Abel Thomas Oommen et al.
Objectives: Myofibrillar myopathy (MFM) is a group of hereditary neuromuscular disorders with heterogenous manifestations in skeletal and cardiac muscles. Little is known about phenotype-genotype spectrum of MFM in Indian...
David Lacomis,Michael Isfort
David Lacomis
This update begins with the incidence and features of statin-associated muscle symptoms, which may often be misattributed. Articles on potential muscle mitochondria dysfunction from statins follow, along with recommendations for possibly av...
RNA Sequencing Confirms the Pathogenicity of a Novel FHL1 Deletion in a Kinship With Emery-Dreifuss Muscular Dystrophy [0.03%]
RNA测序证实了埃默里-德雷夫斯肌肉营养不良氏家族中一种新的FHL1基因缺失的致病性
Chinmayee B Nagaraj,Cuixia Tian,Hani Kushlaf
Chinmayee B Nagaraj
Pathogenic variants in FHL1 are associated with X-linked reducing body myopathy, scapuloperoneal myopathy, myopathy with postural muscle atrophy or Emery-Dreifuss muscular dystrophy type 6. Emery-Dreifuss muscular dystrophy is characterized...
Safety of Onasemnogene Abeparvovec Administration to Type 1 SMA Patients Who Have Received Risdiplam [0.03%]
接受瑞西普姆治疗的1型SMA患者使用Onasemnogene Abeparvovec治疗的安全性研究
Sivakami Chelladurai,Sarah D&#x;Urso,Mark Atherton et al.
Sivakami Chelladurai et al.
Three therapies are now available for the treatment of type 1 spinal muscular atrophy: onasemnogene abeparvovec (OA), nusinersen, and risdiplam. We present a retrospective, single-center case series detailing our center's experience with si...
Amyotrophic Lateral Sclerosis Associated With Severe Sensory Neuronopathy: Case Series [0.03%]
与严重的感觉神经病相关的肌萎缩侧索硬化症系列病例报告
Miguel Oliveira Santos,Susana Pinto,Fernando Silveira et al.
Miguel Oliveira Santos et al.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting primarily the motor system. However, an association with sensory neuronopathy has been scarcely described. We described 3 unrelated patients (2 males) with sporad...
Quantifying Oculomotor Fatigability for Early Detection of Myasthenia Gravis [0.03%]
量化眼动疲劳实现重症肌无力的早期诊断
Ye Lin Kim,Thanh Tin Nguyen,Seung-Bae Hwang et al.
Ye Lin Kim et al.
Objectives: The aim of this prospective, longitudinal study was to validate video-oculography (VOG) for early detection of myasthenia gravis (MG) in patients with clinical suspicion of MG but lacking confirmatory laborato...
Neuromuscular Ultrasound Identification of Musculocutaneous Fasciculopathies in Neuralgic Amyotrophy [0.03%]
神经肌肉超声识别神经性肌萎缩的肌皮神经营养不良病灶
Michael D Zhitnitsky,Julia T Carter,Marco Rizzo et al.
Michael D Zhitnitsky et al.
Tofersen for Amyotrophic Lateral Sclerosis: Genetic Treatment With Precision Medicine: The Future of ALS Treatment [0.03%]
ALS的基因精准医疗：Tofersen治疗肌萎缩性侧索硬化症的未来
Abdullah Ashraf Hamad
Abdullah Ashraf Hamad
Oculopharyngeal Muscular Dystrophy Responding to Treatment: A Report of 2 Cases [0.03%]
对治疗有反应的双眼睑咽部肌营养不良症：2例报道
Ali Sreij,Ghaysaa El Hasan,Rawan Chakas et al.
Ali Sreij et al.