Fat embolism syndrome in Duchenne muscular dystrophy: an underdiagnosed complication [0.03%]
杜氏肌营养不良症脂肪栓塞综合征：一个被忽视的并发症
Michele Tosi,Michela Catteruccia,Nicoletta Cantarutti et al.
Michele Tosi et al.
Introduction: Fat embolism syndrome (FES) is a rare but potentially life-threatening complication of long bone fractures, typically described in high-energy trauma. In patients with Duchenne Muscular Dystrophy (DMD), even...
Comorbid autosomal dominant LDLR- and collagen VI-related disorders [0.03%]
共病的常染色体显性低密度脂蛋白受体和VI型胶原相关疾病
Bukola A Olarewaju,David Melville,Judy B Tejon et al.
Bukola A Olarewaju et al.
Objectives: Collagen 6-related Bethlem myopathy and LDLR-related familial hypercholesterolemia are presumed to be quite rare in the general population. Ca...
Severe neonatal presentation of Xp21 contiguous gene deletion: adrenal crisis and neuromuscular involvement [0.03%]
Xp21区邻近基因缺失的严重新生儿期表现：肾上腺危象和神经肌肉受累
Sandra Stanković,Tatjana Stanković,Milica Ignjatović et al.
Sandra Stanković et al.
Background: Xp21 contiguous gene deletion syndrome is a rare X-linked disorder involving deletions of DMD, GK, and NR0B1 (DAX1), leading to a combination of Duchenne muscular dystrophy, glycerol kinase deficiency, and con...
The case of a highly trained TRPV4 related scapuloperoneal spinal muscular atrophy patient: a 5-year follow-up [0.03%]
一个与TRPV4有关的肩腓脊髓肌肉萎缩症的高度训练病例：五年随访
Oscar Crisafulli,Matteo Fortunati,Venere Quintiero et al.
Oscar Crisafulli et al.
Objectives: This case report explores the feasibility and effects of long-term physical exercise (PE) in a patient with TRPV4-related scapuloperoneal spinal muscular atrophy (SPSMA). ...
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...