Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy [0.03%]
提高诊断精度：表型驱动分析揭示RYR1先天性肌病个体中的母系嵌合体现象
Berta Estévez-Arias,Leslie Matalonga,Loreto Martorell et al.
Berta Estévez-Arias et al.
Congenital myopathies (CMs) are rare genetic disorders for which the diagnostic yield does not typically exceed 60% . We performed deep phenotyping, histopathological studies, clinical exome and trio genome sequencing and a phenotype-driven...
Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study [0.03%]
通过跳跃重复的单一外显子增加杜氏肌营养不良患者中的全长 dystrophin：一项开放标签研究
Stefan Nicolau,Jyoti Malhotra,Maryann Kaler et al.
Stefan Nicolau et al.
Single exon duplications account for disease in a minority of Duchenne muscular dystrophy patients. Exon skipping in these patients has the potential to be highly therapeutic through restoration of full-length dystrophin expression. We cond...
DySMA - an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing [0.03%]
DySMA - 监测0至24个月脊髓性肌萎缩症儿童吞咽功能的工具：开发、共识和初步测试
Jana Zang,Stefanie Witt,Jessika Johannsen et al.
Jana Zang et al.
Background: The manifestation of bulbar symptoms, especially swallowing, is important for evaluating disease-modifying therapies for spinal muscular atrophy (SMA). Due to the lack of instruments, the topic is still underr...
Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3 [0.03%]
修订版哈默史密斯量表中未治疗的2型和3型脊髓肌萎缩症患者队列的疾病轨迹分析
Amy Wolfe,Georgia Stimpson,Danielle Ramsey et al.
Amy Wolfe et al.
Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterised by progressive motor function decline. Motor function is assessed using several functional outcome measures including the Revised Hammers...
A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia [0.03%]
Sodium通道阿尔法亚单位基因（SCN4A）第1775位点突变(C>T)在三代撒丁家族的钠通道肌强直中的作用
Carmen Campanale,Paola Laghetti,Ilaria Saltarella et al.
Carmen Campanale et al.
Background: The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the CLCN1 gene. Clinically, they are characterize...
Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies - Developing Potential Treatments for the Entire Spectrum of Disease [0.03%]
关于杜氏肌营养不良、贝克尔肌营养不良和相关营养不良疾病-开发整个疾病的潜在治疗方法的产业草案指导意见
Craig McDonald,Eric Camino,Rafael Escandon et al.
Craig McDonald et al.
Background: Duchenne muscular dystrophy (DMD) and related dystrophinopathies are neuromuscular conditions with great unmet medical needs that require the development of effective medical treatments. ...
The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy [0.03%]
IAAM LTBP4等位基因可预防缺乏 dystrophin 的心肌病
Luca Bello,Daniele Sabbatini,Aurora Fusto et al.
Luca Bello et al.
Background: Dilated cardiomyopathy (DCM) is a major complication of, and leading cause of mortality in Duchenne muscular dystrophy (DMD). Its severity, age at onset, and rate of progression display wide variability, whose...
Treatment of Symptomatic Spinal Muscular Atrophy with Nusinersen: A Prospective Longitudinal Study on Scoliosis Progression [0.03%]
努西仁森治疗有症状的脊髓性肌萎缩症：一项关于脊柱侧弯进展的前瞻性纵向研究
Hoi Ning Hayley Ip,Michael Kwan Leung Yu,Wilfred Hing Sang Wong et al.
Hoi Ning Hayley Ip et al.
Background: Nusinersen treatment has demonstrated efficacy in improving clinical outcomes for spinal muscular atrophy (SMA), yet its impact on scoliosis progression remains unclear. ...
Laurane Mackels,Laurent Servais
Laurane Mackels
There has been tremendous progress in treatment of neuromuscular diseases over the last 20 years, which has transformed the natural history of these severely debilitating conditions. Although the factors that determine the response to thera...
Expert Insights from a Delphi-driven Neurologists' Panel: Real-world Mexiletine use in Patients with Myotonic Disorders in Italy [0.03%]
以德尔菲法为指导的神经学家小组的专业见解：意大利肌肉肥大疾病患者实际使用美西律的情况
Dario Lidonnici,Pietro Brambilla,Roberto Ravasio et al.
Dario Lidonnici et al.
Background: Myotonic disorders, such as non-dystrophic myotonias (NDMs) and myotonic dystrophies (DMs) are characterized by a delay in muscle relaxation after a contraction stimulus. There is general consensus that protoc...