Myotonic Dystrophy type 2 unmasked by physical activity resumption following COVID-19 lockdown: case discussion and review of the literature [0.03%]
COVID-19封城结束后，因重新开始体育活动而显现的2型肌强直性营养不良：病例讨论和文献回顾
Sabrina Lucchiari,Francesca Magri,Martina Rimoldi et al.
Sabrina Lucchiari et al.
Objective: Myotonic dystrophy type 2 (DM2; PROMM) is characterized by myotonia and muscle dysfunction, episodic muscle pain, proximal and axial weakness of the neck flexors. We describe the case of a young woman affected ...
Congenital tubular aggregates myopathy associated with central nervous system involvement: description of a case [0.03%]
与中枢神经系统受累相关的先天性管状聚集肌病：病例描述
Guillaume Baille,Gianmarco Severa,Camille Verebi et al.
Guillaume Baille et al.
Tubular aggregate myopathy is a rare neuromuscular condition associated with the presence of myofibers protein accumulations, in the form of dense tubular aggregates. Clinically it is characterized by proximal muscular weakness, exercise-in...
The FHL1 myopathy spectrum revisited: a literature review and report of two new patients [0.03%]
FHL1肌病谱系再认识：文献回顾及两名新患者的报道
Maria Caputo,Benedikt Schoser
Maria Caputo
Objectives: Mutations in the FHL1 gene have been associated with a diverse spectrum of X-linked diseases affecting skeletal and cardiac muscle. Six clinically distinct human myopathies can be recognized, including reducin...
Efficacy of ephedrine treatment in COLQ-related Congenital Myasthenic Syndrome (CMS): longitudinal quantitative assessment in a 71-year-old man [0.03%]
用于COLQ相关先天性肌无力综合征（CMS）的麻黄碱治疗疗效：对一位71岁男性患者的纵向定量评估
Giulio Gadaleta,Guido Urbano,Enrica Rolle et al.
Giulio Gadaleta et al.
Introduction and aims: We describe a case of long-living COLQ-related congenital myasthenic syndrome (CMS) benefitting from ephedrine with an overall improvement quantified with functional measures. ...
The Epigenetic Rescue of Dystrophin Dysfunction study of givinostat in ambulatory Duchenne muscular dystrophy patients [0.03%]
关于给伊诺司特治疗杜氏肌营养不良患者的表观遗传学重塑研究
Luca Bello,Valeria Sansone,Riccardo Masson et al.
Luca Bello et al.
Focal myositis: a literature review of clinical and immunopathological aspects [0.03%]
焦点肌炎的临床和免疫病理特点回顾
Alessia Pugliese,Alba Migliorato,Adele Barbaccia et al.
Alessia Pugliese et al.
Objectives: Focal myositis (FM) is a rare and restricted skeletal muscle inflammation, presenting as a solid mass with a typical lower leg localization and benign prognosis. In most cases the process solves spontaneously ...
Transition and management of patients with Duchenne Muscular Dystrophy: a narrative review based on Italian experts' opinion and real-world experience [0.03%]
杜氏肌营养不良患者转诊和管理：基于意大利专家意见和真实世界经验的叙述性回顾
Carlotta Spagnoli,Rachele Adorisio,Luca Bello et al.
Carlotta Spagnoli et al.
Objectives: Duchenne Muscular Dystrophy (DMD) is a severe, progressive, X-linked disorder resulting in muscle wasting, progressive functional loss and cardiomyopathy. Therapeutic strategies feature glucocorticoid corticos...
Gene therapy for Duchenne Muscular Dystrophy: assessing the readiness of Italian centres of expertise [0.03%]
杜氏肌营养不良基因治疗：评估意大利专家中心的准备情况
Marika Pane,Enrico S Bertini,Eleonora Russo et al.
Marika Pane et al.
Objectives: Duchenne muscular dystrophy (DMD) is a heritable disorder that causes a rapid and progressive loss of ambulatory skills. There is no curative therapy for this pathology, that is currently managed with a combin...
Abnormal expression of myosin heavy chains in early postnatal stages of spinal muscular atrophy type I at single fibre level [0.03%]
脊髓性肌萎缩症Ⅰ型早期发病阶段单纤维肌球蛋白重链异常表达
Carola Hedberg-Oldfors,Elizabeth Jennions,Kittichate Visuttijai et al.
Carola Hedberg-Oldfors et al.
Objective: We investigated myosin heavy chain (MyHC) isoform expression at early postnatal stages of clinically and genetically confirmed spinal muscular atrophy type 1 (SMA1) patients, in order to study the muscle fibre ...
Enhancing respiratory function in neuromuscular disease: the role of non-invasive ventilation. A narrative review [0.03%]
神经肌肉疾病呼吸功能的改善：无创通气的作用。叙事性综述
Paolo Banfi,Agata Alba Maria Domenica Buscemi,Elena Compalati et al.
Paolo Banfi et al.
Neuromuscular diseases (NMDs) comprise a heterogeneous group of conditions characterized by extreme progressive muscle weakness leading to respiratory failure. Noninvasive mechanical ventilation (NIV) has emerged as a cornerstone in the man...