Prevalence and disease progression of genetically-confirmed facioscapulohumeral muscular dystrophy type 1 (FSHD1) in China between 2001 and 2020: a nationwide population-based study

Abstract excerpt

Background Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a rare disease, which is often underdiagnosed due to its heterogeneous presentations and complex molecular genetic basis, leading to a lack of population-based epidemiology data, especially of prevalence and disease progression. Methods Fujian Neuromedical Centre (FNMC) is a diagnosis centre for clinical-genetic FSHD in China, and the only one...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cardiomyopathy and Myosin Studies
• Share to Genetic Neurodegenerative Diseases
• Share to Muscle Physiology and Disorders