Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families [0.03%]
TACO1确认为两个额外家庭的莱igh综合征疾病基因
Yavuz Oktay,Serdal Güngör,Lena Zeltner et al.
Yavuz Oktay et al.
Background: In 2009, we identified TACO1 as a novel mitochondrial disease gene in a single family, however no second family has been described to confirm the role of TACO1 in mitochondrial disease. ...
Retrospective Analysis of Eculizumab in Patients with Acetylcholine Receptor Antibody-Negative Myasthenia Gravis: A Case Series [0.03%]
补体抑制剂依库珠单抗治疗乙酰胆碱受体阴性重症肌无力患者回顾性分析（病例系列）
Sorabh Datta,Shivangi Singh,Raghav Govindarajan
Sorabh Datta
Background: The role of the complement cascade in acetylcholine receptor antibody-negative (AChR-) myasthenia gravis (MG) is unclear. Objective: ...
Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review [0.03%]
DMD外显子51跳过型缺失的临床表型：系统性回顾
Megan A Waldrop,Rabah Ben Yaou,Karin K Lucas et al.
Megan A Waldrop et al.
Background: Eteplirsen, the first FDA-approved RNA-modifying therapy for DMD, is applicable to ∼13% of patients with DMD. Because multiple exonic deletions are amenable to exon 51 skipping, the isoforms resulting from th...
Assessing Physical Activity Using Accelerometers in Youth with Duchenne Muscular Dystrophy [0.03%]
评估杜氏肌营养不良症患儿的体力活动量（使用加速度计）
David Arteaga,Thomas Donnelly,Kimberly Crum et al.
David Arteaga et al.
Background: Physical activity, assessed by accelerometers, has been proposed as a quantitative outcome measure for patients with DMD, but research is limitedObjective:To assess the total amount and patterns of physical ac...
Rehabilitation Following Fracture in Dystrophinopathy, A Case Series [0.03%]
dystrophinopathy 患者骨折后的康复治疗（病例系列）
Allan M Glanzman,Jennifer Jones,Christina Z Thompson et al.
Allan M Glanzman et al.
Background: Boys with dystrophinopathies (DMD) are at increased risk of low bone mineral density and fracture. Femoral fracture is the most common extremity fracture and is accompanied by significant risk of functional lo...
Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years [0.03%]
希腊脊髓性肌萎缩的基因型和流行病学评估：一项为期24年的全国性研究
Kyriaki Kekou,Maria Svingou,Christalena Sofocleous et al.
Kyriaki Kekou et al.
Background: Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients' quality of life and disease epidemiology. Spinal Muscular Atr...
Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy [0.03%]
血液衍生生物标志物与杜氏肌营养不良症临床进展相关性研究
Kristin Strandberg,Burcu Ayoglu,Andreas Roos et al.
Kristin Strandberg et al.
Background: Duchenne Muscular Dystrophy is a severe, incurable disorder caused by mutations in the dystrophin gene. The disease is characterized by decreased muscle function, impaired muscle regeneration and increased inf...
Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis [0.03%]
凯里-费尼曼-齐特综合征：一种类似脑干发育不良的MYMK相关性肌病
Ana Camacho,Beatriz Martínez,Sara Alvarez et al.
Ana Camacho et al.
Carey-Fineman-Ziter syndrome is a congenital myopathy associated with mutations in the MYMK gene. It is clinically defined by the combination of hypotonia, Moebius-Robin sequence, facial anomalies and motor delay. Historically it was consid...
Feeding and Swallowing Problems in Infants with Spinal Muscular Atrophy Type 1: an Observational Study [0.03%]
婴儿型脊髓性肌肉萎缩症患者的喂养及吞咽困难问题：一项观察性研究
A M B van der Heul,I Cuppen,R I Wadman et al.
A M B van der Heul et al.
Background: Infantile hereditary proximal spinal muscular atrophy (SMA) type 1 is characterized by onset in the first 6 months of life and severe and progressive muscle weakness. Dysphagia is a common complication but has...
Observational Study
Journal of neuromuscular diseases. 2020;7(3):323-330. DOI:10.3233/JND-190465 2020