Gene-panel and whole-exome analyses are now standard methodologies for mutation
detection in Mendelian disease. However, the diagnostic yield achieved is at best 50 …

Uniparental disomy (UPD) is the inheritance of both homologous chromosomes from a
single parent. Most chromosomes involving UPD have no pathogenic effects. However …

Meiotic nondisjunction and resulting aneuploidy can lead to severe health consequences in
humans. Aneuploidy rescue can restore euploidy but may result in uniparental disomy …

In eukaryotes, a nascent peptide entering the endoplasmic reticulum (ER) is scanned by two
Sec61 translocon-associated large membrane machines for protein N-glycosylation and …

Background Dystroglycanopathies are a group of inherited disorders characterized by vast
clinical and genetic heterogeneity and caused by abnormal functioning of the ECM receptor …

Deficiencies in the human dystrophin glycoprotein complex (DGC), which links the
extracellular matrix with the intracellular cytoskeleton, cause muscular dystrophies, a group …

Congenital muscular dystrophies (CMDs) are inherited, progressive and heterogeneous
muscle disorders. A group of CMDs are dystroglycanopathies, also called α …

Abstract Background Phosphomannomutase 2 deficiency (PMM2‐CDG) affects
glycosylation pathways such as the N‐glycosylation pathway, resulting in loss of function of …

Background Chromosomal microarray analysis (CMA) is a valuable tool in prenatal
diagnosis for the detection of chromosome uniparental disomy (UPD). This retrospective …

Abstract α-抗肌萎缩相关糖蛋白病(alpha-dystroglycanopathy， α-DGP) 是由于α-
抗肌萎缩相关糖蛋白(alpha-dystroglycan， α-DG) 异常糖基化导致的一组先天性肌营养不良症 …