Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family [0.03%]
土耳其一个近亲结婚的家庭中发生的二氢吡啶受体先天性肌病
Uluç Yiş,Semra Hiz,Sezgin Güneş et al.
Uluç Yiş et al.
Dihydropyridine receptor congenital myopathy is a recently described congenital myopathy caused by dominant or recessive mutations in the CACNA1S gene. To date, only 11 cases from 7 families were described in a single report. Here, we descr...
A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacks [0.03%]
使用PhenoStacks对先天性肌迟缓性 dystrophy的表型描述
Madhavi Prasad,Michael Glueck,Delia Ceballos-Saenz et al.
Madhavi Prasad et al.
Background: Congenital Myotonic Dystrophy (CDM1) is a rare neuromuscular condition caused by a triplet repeat expansion in the DMPK gene. Despite there being a well-recognized clinical syndrome, there has not been an effo...
Intra-Rater Reliability and Concurrent Validity of Quantified Muscle Testing for Maximal Knee Extensors Strength in Men with Myotonic Dystrophy Type 1 [0.03%]
量化肌力检查法评估1型肌迟缓性 dystrophy患者最大膝伸展肌力的评定者一致性可靠性及其 concurrent validity研究
Marie-Pier Roussel,Luc J Hébert,Elise Duchesne
Marie-Pier Roussel
Background: Myotonic dystrophy type 1 (DM1) is the most prevalent degenerative neuromuscular disease in adults. Knee extensor (KE) maximal strength loss is a strong indicator of physical limitations in DM1. A reliable, pr...
Implementing a Global Expanded Access Program (EAP) for Infantile-Onset Spinal Muscular Atrophy (Type I): Understanding the Imperative, Impact and Challenges [0.03%]
婴儿期脊髓性肌萎缩症（I型）全球扩大准入计划(EAP)的实施：理解其必要性、影响和挑战
Jonathan Yong,Megan Moffett,Sam Lucas
Jonathan Yong
Nusinersen is the first disease-modifying therapy approved for the treatment of spinal muscular atrophy (SMA), a rare genetic disorder characterized by severe progressive muscular atrophy and weakness. An expanded access program (EAP) provi...
MuscleViz: Free Open-Source Software for Muscle Weakness Visualization [0.03%]
肌力視覺化自由開源軟件-MuscleViz
Jason D Wittenbach,Benjamin T Cocanougher,Pomi Yun et al.
Jason D Wittenbach et al.
Muscle strength testing is routine in clinical practice. Here we provide an aid to the documentation and visual conceptualization of those results - MuscleViz: a free, open-source application for visualizing the results of muscle strength t...
Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp) [0.03%]
MFN2变异引起的晚发性CMT2A患者一例(p.Leu741Trp)
Hsin-Pin Lin,Kwo Wei David Ho,Nivedita U Jerath
Hsin-Pin Lin
Mutations in MFN2 cause a range of Charcot-Marie-Tooth disease (CMT) phenotypes with different inheritance patterns and underlying pathogenic mechanisms. Recently, a family with a dominantly inherited CMT harboring c.2222T>G (p.Leu741Trp) m...
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service [0.03%]
基于外显子组的面板测序在神经肌肉病中的诊断应用
Dineke Westra,Meyke I Schouten,Bas C Stunnenberg et al.
Dineke Westra et al.
Background: Neuromuscular disorders (NMDs) are clinically and genetically heterogeneous. Accurate molecular genetic diagnosis can improve clinical management, provides appropriate genetic counseling and testing of relativ...
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study [0.03%]
遗传性罕见病的遗传修饰基因鉴定及致病机制研究
Feifei Tao,Gary W Beecham,Adriana P Rebelo et al.
Feifei Tao et al.
Background: Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by a uniform 1.5-Mb duplication on chromosome 17p, which includes the PMP22 gene. Patients often present the classic neuropathy phenotype, but also with hi...
Myo-Glyco disease Biology: Genetic Myopathies Caused by Abnormal Glycan Synthesis and Degradation [0.03%]
肌糖病生物学：异常糖合成和降解引起的遗传性肌病
Motoi Kanagawa
Motoi Kanagawa
Glycosylation is a major form of post-translational modification and plays various important roles in organisms by modifying proteins or lipids, which generates functional variability and can increase their stability. Because of the physiol...