期刊
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS
卷 16, 期 7, 页码 -出版社
SPRINGER
DOI: 10.1007/s11910-016-0667-0
关键词
Muscular dystrophy; Genetics; Facioscapulohumeral dystrophy; DUX4; SCHMD1
资金
- NIH
- FSH Society
- aTyr Pharma
- Acceleron
Facioscapulohumeral muscular dystrophy (FSHD) is a clinically recognizable and relatively common muscular dystrophy. It is inherited mostly as an autosomal dominant disease or in a minority of cases, in a digenic pattern. The disease manifestation is variable and most likely dependent on genetic and epigenetic factors. We review the history, epidemiology, clinical presentation, and genetics of the disease, present the recently elucidated molecular pathogenesis, discuss the pathology and the possible consequence of the inflammation seen in the muscle biopsies, and consider future treatments.
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