Multi-slice MRI reveals heterogeneity in disease distribution along the length of muscle in Duchenne muscular dystrophy [0.03%]
多切片磁共振成像揭示杜氏肌营养不良症肌肉病变沿肌肉长度分布的异质性
Stephen M Chrzanowski,Celine Baligand,Rebecca J Willcocks et al.
Stephen M Chrzanowski et al.
Background: Duchenne muscular dystrophy (DMD) causes progressive pathologic changes to muscle secondary to a cascade of inflammation, lipid deposition, and fibrosis. Clinically, this manifests as progressive weakness, fun...
Arrhythmogenic right ventricular cardiomyopathy in Boxer dogs: the diagnosis as a link to the human disease [0.03%]
拳击犬右心室心肌病的诊断及其与人类疾病的关系
Annina S Vischer,David J Connolly,Caroline J Coats et al.
Annina S Vischer et al.
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a myocardial disease with an increased risk for ventricular arrhythmias. The condition, which occurs in Boxer dogs, shares phenotypic features with the...
Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life [0.03%]
Nav1.4-G1306E突变导致的永久性肌强直临床表型多异
Frank Lehmann-Horn,Adele D&#x;Amico,Enrico Bertini et al.
Frank Lehmann-Horn et al.
Introduction: Myotonia permanens due to Nav1.4-G1306E is a rare sodium channelopathy with potentially life-threatening respiratory complications. Our goal was to study phenotypic variability throughout life. ...
Complete resolution of left atrial appendage thrombosis with oral dabigatran etexilate in a patient with Myotonic Dystrophy type 1 and atrial fibrillation [0.03%]
口服达比加群酯治疗肌迟缓性营养不良1型伴房颤患者的左心耳血栓完全消退一例报告
Anna Rago,Andrea Antonio Papa,Giulia Arena et al.
Anna Rago et al.
Myotonic Dystrophy type 1 (DM1) is the most common muscular dystrophy in adult life characterized by muscle dysfunction and cardiac conduction abnormalities. Atrial fibrillation frequently occurs in DM1 patients. It's related to the discont...
Is the epicardial left ventricular lead implantation an alternative approach to percutaneous attempt in patients with Steinert disease? A case report [0.03%]
Steinert病患者经皮入路失败后 epicardial左心室导线植入的有效性：一例报告
Andrea Antonio Papa,Anna Rago,Roberta Petillo et al.
Andrea Antonio Papa et al.
Steinert's disease or Myotonic Dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder characterized by myotonia, muscle and facial weakness, cataracts, cognitive, endocrine and gastrointestinal involvement, and cardiac condu...
Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene [0.03%]
3例由LMNA基因突变引起的扩张型心肌病病例报告
Larysa N Sivitskaya,Nina G Danilenko,Tatiyana G Vaikhanskaya et al.
Larysa N Sivitskaya et al.
Three cases of delated cardiomyopathy (DCM) with conduction defects (OMIM 115200), limb girdle muscular dystrophy 1B (OMIM 159001) and autosomal dominant Emery-Dreifuss muscular dystrophy 2 (OMIM 181350), all associated with different LMNA ...
The multifaceted clinical presentation of VCP-proteinopathy in a Greek family [0.03%]
希腊一家族中VCP蛋白病的临床表现多样性
George K Papadimas,George P Paraskevas,Thomas Zambelis et al.
George K Papadimas et al.
VCP-proteinopathy is a multisystem neurodegenerative disorder caused by mutations in valosin containing protein. Here, we report the first Greek case of VCP-proteinopathy in a 62 year old patient with a slowly progressing muscular weakness ...
Study of anti-Müllerian hormone levels in patients with Myotonic Dystrophy Type 1. Preliminary results [0.03%]
肌营养不良Ⅰ型患者抗缪勒氏管激素水平的研究初步结果
Manuela Ergoli,Massimo Venditti,Raffaele Dotolo et al.
Manuela Ergoli et al.
Myotonic dystrophy type 1 is a multisystemic disorder characterized by myotonia, muscle weakness and involvement of several organs and apparatus such as heart, lungs, eye, brain and endocrine system. Hypogonadism and reproductive abnormalit...
Differential diagnosis of vacuolar muscle biopsies: use of p62, LC3 and LAMP2 immunohistochemistry [0.03%]
vac泡样肌肉活检的鉴别诊断：p62、LC3和LAMP2免疫组化的作用
Elisa Vittonatto,Silvia Boschi,Loredana CHIADò-Piat et al.
Elisa Vittonatto et al.
Intrafibral vacuoles are the morphological hallmark in a wide variety of human skeletal muscle disorders with different etiology. In most cases, differential diagnosis is feasible with a routine histochemical work up of muscle biopsy. Ultra...