Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review [0.03%]
先天性周期性麻痹伴持续远端和面肌无力的病例报告及文献回顾
Tomoya Taminato,Madoka Mori-Yoshimura,Jun Miki et al.
Tomoya Taminato et al.
Background: Paramyotonia congenita (PC; OMIM 168300) is a non-dystrophic myotonia caused by mutations in the SCN4A gene. Transient muscle stiffness, usually induced by exposure to cold and aggravated by exercise, is the p...
RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design [0.03%]
RESTORE研究：遗传学确诊脊髓性肌萎缩症患者多国前瞻性登记队列研究的设计和立题依据
Richard S Finkel,John W Day,Darryl C De Vivo et al.
Richard S Finkel et al.
Background: Dramatic improvements in spinal muscular atrophy (SMA) treatment have changed the prognosis for patients with this disease, leading to important new questions. Gathering representative, real-world data about t...
Observational Study
Journal of neuromuscular diseases. 2020;7(2):145-152. DOI:10.3233/JND-190451 2020
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies [0.03%]
改善Titin变异分类的 inherited skeletal myopathy诊断标准
Marco Savarese,Mridul Johari,Katherine Johnson et al.
Marco Savarese et al.
Background: Extensive genetic screening results in the identification of thousands of rare variants that are difficult to interpret. Because of its sheer size, rare variants in the titin gene (TTN) are detected frequently...
Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2 [0.03%]
新生儿筛查阳性的脊髓性肌萎缩症患儿拥有4个SMN2拷贝数的治疗推荐意见修订版
Jacqueline Glascock,Jacinda Sampson,Anne M Connolly et al.
Jacqueline Glascock et al.
Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants [0.03%]
八种不同类型的神经病变的临床及基因分型研究报告
Natalie Forrester,Rohini Rattihalli,Rita Horvath et al.
Natalie Forrester et al.
Pathogenic variants in the Glycyl-tRNA synthetase gene cause the allelic disorders Charcot-Marie-Tooth disease type 2D and distal hereditary motor neuropathy type V. We describe clinical features in 8 unrelated patients found to have Glycyl...
Upregulation of Hallmark Muscle Genes Protects GneM743T/M743T Mutated Knock-In Mice From Kidney and Muscle Phenotype [0.03%]
上调标志性肌肉基因可保护GneM743T/M743T突变敲入小鼠免于肾脏和肌肉表型损害
Hadar Benyamini,Yehuda Kling,Lena Yakovlev et al.
Hadar Benyamini et al.
Background: Mutations in GNE cause a recessive, adult onset myopathy characterized by slowly progressive distal and proximal muscle weakness. Knock-in mice carrying the most frequent mutation in GNE myopathy patients, Gne...
Characterizing Enrollment in Observational Studies of Duchenne Muscular Dystrophy by Race and Ethnicity [0.03%]
按人种和种族分类杜氏肌营养不良观察研究的注册情况
Alison M Barnard,Samuel L Riehl,Rebecca J Willcocks et al.
Alison M Barnard et al.
Observational research benefits from inclusion of diverse cohorts. To characterize racial and ethnic diversity in observational and natural history research studies of Duchenne muscular dystrophy (DMD), highly cited and influential observat...
The Slipping Slipper Sign: A Poor Man's Test for Severe Diabetic Peripheral Neuropathy [0.03%]
糖尿病外周神经病变的滑鞋征检查法
Khama Lutchmansingh,Y Swamy Venkatesh,Leela Krishna Teja Boppana et al.
Khama Lutchmansingh et al.
Background: Neuropathic feet are at very high risk for infection and amputation. The slipping slipper sign (SSS) is elicited by a simple questionnaire test reported to detect the presence of severe diabetic peripheral neu...
Relationship between Eating and Digestive Symptoms and Respiratory Function in Advanced Duchenne Muscular Dystrophy Patients [0.03%]
杜氏肌营养不良晚期患者进食及消化症状与呼吸功能的关系
Jang Woo Lee,Hyun Jun Oh,Won Ah Choi et al.
Jang Woo Lee et al.
Background: Duchenne muscular dystrophy (DMD) patients can have various issues that affect their quality of life, including eating and digestive conditions. ...
Observational Study
Journal of neuromuscular diseases. 2020;7(2):101-107. DOI:10.3233/JND-190435 2020
Identification and Functional Analysis of RYR1 Variants in a Family with a Suspected Myopathy and Associated Malignant Hyperthermia [0.03%]
RYR1变异的鉴定及功能分析在怀疑合并恶性高热表型肌病家系中的研究
Anja H Schiemann,Cornelia Roesl,Neil Pollock et al.
Anja H Schiemann et al.
Background: The ryanodine receptor 1 (RyR1) is a major skeletal muscle calcium release channel located in the sarcoplasmic reticulum and involved in excitation-contraction coupling. Variants in the gene encoding RyR1 have...