Deciphering Facioscapulohumeral Dystrophy in the clinical trials era: where are we now? [0.03%]
临床试验时代面肩肱型肌营养不良症的研究进展如何？
Francesca Torri,Beatrice Ciurli,Mariaconcetta Rende et al.
Francesca Torri et al.
Objectives: Facioscapulohumeral muscular dystrophy (FSHD) is a common genetic disorder characterized by progressive muscle weakness, especially in the face, shoulders, and upper limbs. Despite extensive research, the unde...
Gabriele Siciliano,Michelangelo Mancuso,Giulia Ricci
Gabriele Siciliano
Severe progressive respiratory involvement requiring ventilator support in autosomal recessive Bethlem myopathy. A case report [0.03%]
常染色体隐性遗传贝特勒肌营养不良严重进行性呼吸系统受累一例报告
Anna Annunziata,Gerardo Langella,Rosa Cauteruccio et al.
Anna Annunziata et al.
Bethlem myopathy (BM) was first described in 1976 by Bethlem and van Wijngaarden in patients who presented a myopathy characterized by slowly progressive muscle weakness and typical flexion contractures of the long finger flexors, wrists, e...
Mattia Porcino,Fabio Guccione,Cristian Usbergo et al.
Mattia Porcino et al.
Objective: This case study aimed to evaluate the safety and efficacy of sleeve gastrectomy surgery in an obese patient with Late-onset Pompe disease (LOPD) and to explore the potential role of bariatric surgery in improvi...
The TRIM32 geno-phenotype spectrum: a literature review and 25-year clinical follow-up of two brothers living with sarcotubular myopathy [0.03%]
TRIM32基因表型谱：文献回顾及患有肌管性肌病的两位兄弟的25年临床随访研究
Maria Caputo,Benedikt Schoser
Maria Caputo
Objectives: Pathogenic TRIM32 gene variant was first described in 1976 in the Hutterite population of North America, presenting a phenotype of Limb-girdle muscular dystrophy R8 (LGMDR8, formerly termed LGMD2H). In recent ...
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.