Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation [0.03%]
由FKRP基因新复等位基因突变引起的小肢带型肌营养不良R9表型
Ikhlass Belhassen,Rita Menassa,Salma Sakka et al.
Ikhlass Belhassen et al.
Fukutin-related protein (FKRP) mutations cause a broad spectrum of muscular dystrophies, from a relatively mild limb-girdle muscular dystrophy type 9 (LGMDR9) to severe congenital muscular dystrophy (CMD). This study aims to report two sibl...
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature [0.03%]
双等位基因SORD突变中的骨骼肌受累：病例报告及文献回顾
Sara Massucco,Chiara Gemelli,Emilia Bellone et al.
Sara Massucco et al.
Biallelic mutations in the sorbitol dehydrogenase (SORD) gene have been identified as a genetic cause of autosomal recessive axonal Charcot-Marie-Tooth disease 2 (CMT2) and distal hereditary motor neuropathy (dHMN). We herein review the mai...
Continuitiy of care with ataluren in Duchenne Muscular Dystrophy patients with nonsense mutations after loss of ambulation. Personal experience [0.03%]
杜氏肌营养不良症患者失去行走能力后 nonsense 诱变型阿塔鲁伦治疗的延续性护理。个人经验
Carlotta Spagnoli,Rachele Adorisio,Luca Bello et al.
Carlotta Spagnoli et al.
Duchenne Muscular Dystrophy (DMD) includes predictable phases requiring dedicated standard treatments. Therapeutic strategies feature corticosteroids or the more recent gene therapy/stop codon read-through. Ataluren (Translarna®) is an ora...
Rafaela Owusu,Marco Savarese
Rafaela Owusu
Massive parallel sequencing methods, such as exome, genome, and targeted DNA sequencing, have aided molecular diagnosis of genetic diseases in the last 20 years. However, short-read sequencing methods still have several limitations, such in...
The atrial and ventricular myocardial proteome of end-stage lamin heart disease [0.03%]
终末期Ⅱ型肢带型肌营养不良患者心室和心房的心肌蛋白组学特征分析
Constantin-Cristian Topriceanu,Mashael Alfarih,Alun D Hughes et al.
Constantin-Cristian Topriceanu et al.
Lamins A/C (encoded by LMNA gene) can lead to dilated cardiomyopathy (DCM). This pilot study sought to explore the postgenomic phenotype of end-stage lamin heart disease. Consecutive patients with end-stage lamin heart disease (LMNA-group, ...
Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients [0.03%]
评估成人脊髓性肌萎缩症患者疲劳性的新临床方案的提出
Giulia Ricci,Francesca Torri,Alessandra Govoni et al.
Giulia Ricci et al.
Objective: Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease affecting the lower motor neuron, carrying a significant burden on patients' general motor skills and quality of life, characterized by a great v...
Afshan Zeeshan Wasti,Amal M H Mackawy,Amal Hussain et al.
Afshan Zeeshan Wasti et al.
This review aims to increase awareness and improve understanding, diagnosis, and management of fibromyalgia - a complex, distressing health challenge that significantly impacts people's lives due to its variable nature and lack of clear dia...
An unusual way to improve lung function in congenital myopathies: the power of singing [0.03%]
改善先天性肌病肺功能的非常方法：唱歌的力量
Maria Rosaria Valentino,Anna Annunziata,Lidia Atripaldi et al.
Maria Rosaria Valentino et al.
Congenital myopathies (CMs) are a clinically and genetically heterogeneous group of disorders characterized by early onset weakness, hypotonia and characteristic structural abnormalities in muscle fibres. Hypotonia and weakness can be prese...
Spontaneously resolving late-onset ocular myasthenia related to COVID-19. A case report [0.03%]
与COVID-19相关的迟发性眼肌型重症肌无力的自发缓解：病例报告
Cyprian Popescu
Cyprian Popescu
Myasthenia gravis (MG) is the most common disease of the neuromuscular junction disorders with bimodal distribution of age, which is often under-estimated in the elderly. Some clinical cases show an association between MG and COVID-19, sinc...