A Distinctive MRI Pattern Resembling Type VI Collagen Myopathy in Novel VWA1-Related Distal Hereditary Motor Neuronopathy With Myopathic Features in a Patient From Spain [0.03%]
西班牙一名患者的新型VWA1相关远端遗传性运动神经元病的磁共振成像特征与VI型胶原肌病相似
Aldo F Costa,Teresa Gómez Caravaca,Sandra Rodríguez Navas et al.
Aldo F Costa et al.
To describe a 51-year-old woman with early-onset weakness and foot deformities carrying a biallelic truncating mutation in the VWA1 gene. The patient underwent laboratory tests, nerve conduction studies with electromyography, muscle magneti...
A Family With X-Linked Charcot-Marie-Tooth Disease Type 1: A Case for Reclassifying a Variant of Uncertain Significance in GJB1and Review of the Literature [0.03%]
X连锁遗传的CMT1患者的家系分析及对GJB1基因变异解读的再评估
Christina Chrisman,Ritwik Keshav,Christopher J Record et al.
Christina Chrisman et al.
Objectives: X-linked Charcot-Marie-Tooth disease Type 1 (CMTX1), caused by gap junction beta-1 (GJB1) mutations, is the second most common form of CMT. Patients present with length-dependent sensorimotor polyneuropathy an...
Thomas Zambelis,Evangelos Anagnostou,Vassiliki Zouvelou et al.
Thomas Zambelis et al.
Neuromuscular Ultrasound of a Common Fibular Nerve Intraneural Ganglion Cyst With Selective Involvement of the Deep Fibular Fascicles [0.03%]
腓神经内血管瘤样囊肿的神经肌肉超声检查及其对腓深神经纤维束的特异性影响
Jessica N Buttinger,Julia T Carter,James B Meiling
Jessica N Buttinger
A Case of Progressive Flaccid Quadriparesis in a Young Woman: Diagnostic Pitfalls and the Role of Backward Reasoning [0.03%]
年轻女性进行性四肢瘫痪病例的诊断陷阱和逆向推理的作用
Sepideh Zolfaghari,Ali Shoeibi,Morteza Saeidi et al.
Sepideh Zolfaghari et al.
A 19-year-old woman presented with acute progressive generalized limb weakness and inability to ambulate, after a recent upper respiratory tract infection. Given the flaccid quadriparesis and preceding infection, Guillain-Barré syndrome (G...
Very-Late Onset Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Associated With Sertraline Use: A Case Report [0.03%]
舍托林引起的晚发型多种酰基辅酶A脱氢酶缺乏症一例报告
Allison R Valerius,Thapat Wannarong,Sofia Rael et al.
Allison R Valerius et al.
Objectives: Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is a rare, yet treatable, disorder of fatty acid β-oxidation with clinical presentations ranging from neonatal to very-late-onset forms. Very-late-onse...
Michele Cavalli,Andra Ezaru,Adrien Olivero et al.
Michele Cavalli et al.
Objectives: Nitrous oxide is a multipurpose gas that has recently gained attention because of its use as a recreational drug and the associated neurological complications of abuse. ...
Transforming Care of Duchene Muscular Dystrophy in Low-Resource Setting Through Community-Led Initiatives [0.03%]
通过社区主导的倡议在资源匮乏地区转变杜氏肌营养不良症的护理模式
Muhammad Abdullah Humayun,Anum Akbar,Amna Zaheer
Muhammad Abdullah Humayun
Oculopharyngeal Muscular Dystrophy Is Not Responsive to Immunosuppressant Treatment [0.03%]
免疫抑制治疗对眼咽型肌营养不良无效
Jodi Warman-Chardon,Ian C Smith,Bernard Brais
Jodi Warman-Chardon
Clinical and Electrodiagnostic Findings in Anti-myelin-Associated Glycoprotein Antibody Polyneuropathy: A Single Center Review [0.03%]
抗髓鞘相关糖蛋白抗体周围神经病的临床及电生理特点分析：单中心报告
Joshua Nardin,Christopher Dittus,Rebecca Traub
Joshua Nardin
Objectives: Anti-myelin-associated glycoprotein (MAG) polyneuropathy has been described as a progressive distal, sensorimotor, demyelinating polyneuropathy associated with immunoglobulin M paraprotein and low terminal lat...