A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype [0.03%]
一名罕见同时存在磷酸化酶激酶缺乏症（V型糖原贮积病）和α-葡萄糖苷酶缺乏症（II型糖原贮积病）的53岁男性患者的非典型糖原贮积病表现分析
Esther Picillo,Maria Elena Onore,Luigia Passamano et al.
Esther Picillo et al.
Glycogen Storage Disease (GSD) IXd, caused by PHKA1 gene mutations, is an X-linked rare disorder that can be asymptomatic or associated with exercise intolerance. GSD type II is an autosomal recessive disorder caused by mutations in the GAA...
Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study [0.03%]
ataluren治疗四位有症状的杜氏肌营养不良基因携带者患者的研究（一项初步研究）
Amir Dori,Marianna Scutifero,Luigia Passamano et al.
Amir Dori et al.
Duchenne muscular dystrophy (DMD) is a devastating X-linked neuromuscular disorder caused by dystrophin gene deletions (75%), duplications (15-20%) and point mutations (5-10%), a small portion of which are nonsense mutations. Women carrying...
Assessment of the quality of life in patients with LGMD. The case of transportinopathy [0.03%]
肢带型肌营养不良伴运输蛋白opathies患者生活质量评估：以transportinopathy为例
Corrado Angelini,Alicia Aurora Rodríguez
Corrado Angelini
The Quality of Life (QOL) is influenced by several disease-related factors, support, resources, expectations, and aspirations, within the disease-related concepts. The Individualized Neuromuscular Quality of Life (INQoL) is a validated musc...
Oscar Crisafulli,Angela Berardinelli,Giuseppe D&#x;Antona
Oscar Crisafulli
Hereditary proximal 5q Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder with onset mainly in infancy or childhood. The underlying pathogenic mechanism is the loss of alpha motor neurons in the anterior horns of spine, due to...
Efficacy of N-163 beta-glucan in beneficially improving biomarkers of relevance to muscle function in patients with muscular dystrophies in a pilot clinical study [0.03%]
N-163 β-葡聚糖在益处改善肌肉营养不良患者与肌肉功能相关生物标志物的初步临床研究中的疗效
Kadalraja Raghavan,Thanasekar Sivakumar,Koji Ichiyama et al.
Kadalraja Raghavan et al.
Background: Muscular dystrophies other than Duchenne muscular dystrophy (DMD) are genetic diseases characterized by increasing muscle weakness, loss of ambulation, and ultimately cardiac and respiratory failure. There are...
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...