Natural history of patients with nonsense mutation Duchenne muscular dystrophy treated with ataluren in Spain [0.03%]
西班牙无意义突变杜氏肌营养不良症患者使用ataluren治疗的自然史特征
Jesús Armijo,Andrés Nascimento,Jesica Expósito et al.
Jesús Armijo et al.
Introduction: Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disease linked to the X chromosome caused by the lack of functional dystrophin. About 10-15% of cases are caused by nonsense mutations, and th...
National diagnostic gaps for TK2 Deficiency in Italy: insights from the AIM Multicenter Survey [0.03%]
意大利TK2缺乏症国家诊断缺口：AIM多中心调查的见解
Michelangelo Mancuso,Costanza Lamperti,Olimpia Musumeci
Michelangelo Mancuso
Objective: Thymidine kinase 2 (TK2) deficiency is a rare mitochondrial disease with variable phenotypes and emerging treatments. Prompt diagnosis is essential to optimize patient outcomes and management. To assess the cur...
A novel deep intronic mutation expands the genotype spectrum of MYH7-related myopathies [0.03%]
MYH7相关肌病基因型谱系的新突变使其多样性得到扩展
Andrea Barp,Luca Maria Neri,Lorenzo Maggi et al.
Andrea Barp et al.
Congenital myopathies are a heterogeneous group of rare inherited muscle disorders. Despite the good sensitivity of whole-exome sequencing in detecting pathogenic variants, many cases remain molecularly unsolved. Here, we present the case o...
Twenty-five years of AIM: from the initiative of a small group of myologists to a successful Italian research institution. The story of the Italian Association of Myology [0.03%]
AIM二十五年历程：从肌理学一小群研究人员的倡议到一个成功的意大利研究机构的故事
Tiziana E Mongini,Luisa Politano
Tiziana E Mongini
ZASP/LDB3-related atypical distal myopathy with subtle cardiac impairment unveiled after COVID-19 infection: a short report [0.03%]
新型冠状病毒感染后发现的与ZASP/LDB3相关的不典型远端肌病和轻微心脏损伤：短篇报告
Giulio Gadaleta,Stefano Pidello,Guido Urbano et al.
Giulio Gadaleta et al.
A 34-year-old male with congenital clubfoot, post-exertional rhabdomyolysis, and a family history of sudden cardiac death in mid-life was evaluated for a severe rhabdomyolysis requiring multiple hemodialyses. Clinical evaluation showed mild...
Anti-myogenic and profibrotic effect of serum from patients affected by muscular laminopathies [0.03%]
肌肉层粘连病患者血清的抗肌源性和促纤维化效应
Elisa Schena,Antonella Pini,Paola Cavalcante et al.
Elisa Schena et al.
Emery-Dreifuss Muscular Dystrophy type 2 (EDMD2) and LMNA-related congenital muscular dystrophy (L-CMD) are caused by mutations in LMNA gene. Both pathologies are characterized by joint contractures, muscle weakness and wasting and cardiac ...
Raffaella Manzo,Anna Annunziata,Cecilia Calabrese et al.
Raffaella Manzo et al.
The management of patients with neuromuscular diseases requires a multidisciplinary approach that integrates medical care with targeted psychological support. Respiratory difficulties, often treated with non-invasive ventilation (NIV) are a...
Empowering clinicians with artificial intelligence in hereditary neuromuscular disorders [0.03%]
人工智能在遗传性神经肌肉疾病中的临床应用赋能
Andi Nuredini,Marco Savarese,Filippo Maria Santorelli et al.
Andi Nuredini et al.
Artificial Intelligence (AI) is the ability of machines to perform tasks that typically require human intelligence, such as learning, problem-solving, and decision-making. Its integration into healthcare may revolutionize many areas of medi...
Multimodal Evaluation of Bethlem Myopathy with the c.788G > A Variant in the COL6A1 Gene: a case report with genetic, ultrasonographic, and structural-functional discordance correlations [0.03%]
COL6A1基因c.788G>A突变型贝赫切特肌病的多模态评估：一例遗传、超声和结构-功能不一致的相关性病例报告
Wilmer Santiago Herrera Malpica,Jully C Gómez,Fernando Ortiz-Corredor et al.
Wilmer Santiago Herrera Malpica et al.
Introduction: Bethlem myopathy (BM) is a collagen-VI-related myopathy caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by proximal muscle weakness, distal joint laxity, and contractures, wi...
Cancer and benign tumors in myotonic dystrophy, facioscapulohumeral muscular dystrophy, and oculopharyngeal muscular dystrophy: a 23-year, single-center, retrospective study [0.03%]
肌强直性营养不良、面肩肱型肌营养不良和眼咽型肌营养不良患者中的肿瘤发生：一项23年单中心回顾性研究
Naman Bareja,Brinda Desai,Michal Vytopil et al.
Naman Bareja et al.
Objectives: Some muscular dystrophies, such as myotonic dystrophy type 1 and 2 (DM1 and DM2), facioscapulohumeral muscular dystrophy (FSHD), and oculopharyngeal muscular dystrophy (OPMD), are caused by genetic mutations t...