Unusual Presentation of Viral Myositis With Isolated Distal Upper Extremity Weakness [0.03%]
以孤立的远端上肢无力为表现的病毒性肌炎的特殊表现形式
Jonah Nordeen,Cynthia Nguyen,Kalyn M Dyer et al.
Jonah Nordeen et al.
Neuromuscular Ultrasound Findings in Monomelic Amyotrophy (Hirayama Disease) [0.03%]
单肢肌萎缩（平田病）的神经肌肉超声表现
Lauren C Cooper,Thomas G West,Michael S Cartwright
Lauren C Cooper
Taylor Watson-Fargie,Caroline Carmichael,Samuel Alexander Hayes et al.
Taylor Watson-Fargie et al.
Pedro Nogueira Fontana,Carolina da Cunha Correia,Ana Marina Dutra Ferreira da Silva et al.
Pedro Nogueira Fontana et al.
Objectives: Synaptotagmin-2-related disease is an ultrarare entity, characterized by distal muscle atrophy in the lower limbs, foot deformities and, in some cases, neonatal hypotonia. Most mutations are concentrated in th...
Joshua Smith,David Lacomis
Joshua Smith
The review begins with epidemiology studies that show an increased incidence of later onset myasthenia gravis (MG) and higher short-term mortality rates, especially in females, compared with the general population in Denmark. In the United ...
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