GNE Myopathy - Determination of disease prevalence and investigations into the importance of sialic acid in muscle differentiation

GNE 肌病 - 确定疾病患病率并研究唾液酸在肌肉分化中的重要性

• 批准号: 476323
• 负责人: Derksen Alexa R
• 金额: $ 7.65万
• 依托单位: Children's Hospital of Eastern Ontario Research Institute Inc
• 依托单位国家: 加拿大
• 项目类别: Studentship Programs
• 财政年份: 2022
• 资助国家: 加拿大
• 起止时间: 2022-11-01 至 2025-11-01
• 项目状态: 未结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=476323&lang=en
• 关键词: Gne Myopathy; Neuromuscular Disease; Polysialylation; Prevalence; Sialic Acid

GNE myopathy is a rare inherited neuromuscular disorder which presents in early adulthood with progressive leg weakness leading to loss of ambulation and severe disability. The disease is estimated to affect between 1 and 9 in 1,000,000 individuals, howev

GNE肌病是一种罕见的遗传性神经肌肉疾病，在成年早期表现为进行性腿部无力，导致截肢和严重残疾。然而，据估计，这种疾病在1，000，000人中的发病率为1至9人。