面肩肱型肌营养不良
医学
临床试验
生物信息学
表观遗传学
弱点
疾病
机制(生物学)
肌营养不良
生物
遗传学
内科学
基因
外科
认识论
哲学
出处
期刊:Continuum
[Lippincott Williams & Wilkins]
日期:2022-12-01
卷期号:28 (6): 1735-1751
被引量:23
标识
DOI:10.1212/con.0000000000001155
摘要
The cornerstones of the diagnosis of FSHD are clinical observation and genetic testing. Management is currently supportive, but progress in the understanding of the disease mechanism has shifted the field of FSHD toward targeted therapy development.
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