Clinicopathologic features in a case of intermuscular myopericitoma of thigh [0.03%]
大腿内肌性肌周细胞瘤1例临床病理报告
Renata Hodzic,Mirsad Hodzic,Nermina Piric et al.
Renata Hodzic et al.
Myopericytoma is a benign tumor with the most common presentation as a well-circumscribed, slow-growing mass. It is frequently misdiagnosed as a sarcoma. We presented a 23-year-old patient with a history of a sciatic pain of the right leg. ...
Subacute inflammatory myopathy associated with papillary cancer of the thyroid gland [0.03%]
与甲状腺乳头状癌相关的亚急性炎性肌病
Ana Inês Martins,Adriana Lages,Olinda Rebelo et al.
Ana Inês Martins et al.
Inflammatory myopathies comprise a group of rare autoimmune muscle diseases characterized by a variable degree of muscle weakness, elevated creatine kinase levels and necrotic fibres associated with invading inflammatory cells at histologic...
Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies [0.03%]
心脏疾病作为预测预警遗传性肌肉疾病的信号。以核纤层病为例
Paola D&#x;Ambrosio,Roberta Petillo,Annalaura Torella et al.
Paola D&#x;Ambrosio et al.
Mutations in the LMNA gene are associated with a wide spectrum of disease phenotypes, ranging from neuromuscular, cardiac and metabolic disorders to premature aging syndromes. Skeletal muscle involvement may present with different phenotype...
Facio-scapulo-humeral muscular dystrophy with early joint contractures and rigid spine [0.03%]
早发关节挛缩和僵硬脊柱的面部-肩胛带-肱肌营养不良症
Constantinos Papadopoulos,Vasiliki Zouvelou,George Konstantinos Papadimas
Constantinos Papadopoulos
Early joint contractures in childhood or adolescence irrespective of muscle weakness are usually found in Emery-Dreifuss muscular dystrophy and collagen-VI related diseases and only rarely in the early stages of other progressive muscular d...
Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report [0.03%]
Sudanese肌肉营养不良症患者LAMA2基因罕见变异案例报告
Mutaz Amin,Yousuf Bakhit,Mahmoud Koko et al.
Mutaz Amin et al.
Congenital muscular dystrophies (CMD) are a heterogeneous group of disorders caused by mutations in musculoskeletal proteins. The most common type of CMD in Europe is Merosin-deficient CMD caused by mutations in laminin-α2 protein. Very fe...
Modified Atkins ketogenic diet improves heart and skeletal muscle function in glycogen storage disease type III [0.03%]
改良的阿特金斯生酮饮食可改善III型糖原贮积病患者的心肌和骨骼肌功能
Francesco Francini-Pesenti,Silvia Tresso,Nicola Vitturi
Francesco Francini-Pesenti
Glycogen storage disease type III (GSDIII) management in adult patients includes a high-protein diet with cornstarch supplementation to maintain a normal level of glucose in the blood. This regimen can prevent hypoglycaemia but does not see...
Kavadisseril Vivekanandan Vysakha,Rajalakshmi Poyuran,Sruthi S Nair et al.
Kavadisseril Vivekanandan Vysakha et al.
Scleromyxedema is a rare cutaneous mucinosis with frequent extracutaneous manifestations. Myopathy in scleromyxedema is a poorly recognized syndrome among neurologists and can mimic idiopathic and connective tissue disease-associated inflam...
Chiara Panicucci,Monica Traverso,Serena Baratto et al.
Chiara Panicucci et al.
Tripartite motif-containing protein 32 (TRIM32) is a member of the TRIM ubiquitin E3 ligases which ubiquitinates different substrates in muscle including sarcomeric proteins. Mutations in TRIM32 are associated with Limb-Girdle Muscular Dyst...
Are there real benefits to implanting cardiac devices in patients with end-stage dilated dystrophinopathic cardiomyopathy? Review of literature and personal results [0.03%]
终末期扩张型杜氏肌营养不良性心肌病患者植入心脏设备的真正益处？文献综述与个人结果分析
Alberto Palladino,Andrea A Papa,Salvatore Morra et al.
Alberto Palladino et al.
Cardiomyopathy associated with dystrophinopathies - Duchenne muscular Dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy (XL-CM) and cardiomyopathy of Duchenne/Becker (DMD/BMD carriers - is an almost constant ...
Therapeutic approach with Ataluren in Duchenne symptomatic carriers with nonsense mutations in dystrophin gene. Results of a 9-month follow-up in a case report [0.03%]
ataluren治疗 Duchenne症状携带者染色体 dystrophin基因无义突变的治疗。在1例患者中的9个月随访结果报告
Paola D&#x;Ambrosio,Chiara Orsini,Vincenzo Nigro et al.
Paola D&#x;Ambrosio et al.
Duchenne muscular Dystrophy (DMD) is a X-linked degenerative disorder affecting skeletal muscles and myocardium caused by mutations in the dystrophin gene, mainly deletions and duplications. Point-mutations account for 13% and stop codon mu...