The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy.

Feng LinKang YangMin-Ting LinFu-Ze ZhengLong ChenYuan-Liang DingZhi-Xian YeXin LinNing Wang Zhi-Qiang Wang

Published in: Annals of clinical and translational neurology (2023)

Our findings indicate wide genetic heterogeneity in OPMD in the Chinese population and demonstrate abnormalities in protein degradation pathways in this disease.

Keyphrases

muscular dystrophy
duchenne muscular dystrophy
single cell
genome wide
protein protein
amino acid
copy number
gene expression
dna methylation