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...
Eteplirsen Treatment Attenuates Respiratory Decline in Ambulatory and Non-Ambulatory Patients with Duchenne Muscular Dystrophy [0.03%]
Eteplirsen治疗可缓解杜氏肌营养不良症患者的呼吸功能下降症状
Navid Khan,Helen Eliopoulos,Lixin Han et al.
Navid Khan et al.
Background: Duchenne muscular dystrophy (DMD) patients experience skeletal muscle degeneration, including respiratory muscles. Respiratory decline in glucocorticoid-treated DMD patients, measured by percent predicted forc...
A S Carr,S Shah,D Choi et al.
A S Carr et al.
Here we describe a patient with genetically confirmed ATTR, a family history of the disease and histological confirmation following carpal tunnel release surgery but no other manifestations. The first major neurological or systemic manifest...
Mahima Kapoor,Alexander M Rossor,Matilde Laura et al.
Mahima Kapoor et al.
Systemic amyloidosis can be hereditary or acquired with autosomal dominant mutations in the transthyretin gene (TTR) being the most common cause of hereditary amyloidosis. ATTRm amyloidosis is a multi-system disorder with cardiovascular, pe...