Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms

Christopher R.S. Banerji, Phillip Cammish,Teresinha Evangelista,Peter S. Zammit,Volker Straub,Chiara Marini-Bettolo

Neuromuscular Disorders（2020）

引用 13|浏览25

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摘要

•Facioscapulohumeral muscular dystrophy 1 (FSHD1) has 4 independent presentations.•Multiparity associates with later muscle weakness in FSHD1.•Paternal inheritance associates with earlier foot dorsiflexor weakness in FSHD1.

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关键词

Facioscapulohumeral muscular dystrophy,FSHD,FSHD1,Symptom onset,Clinical subgroup,Patient registry,Heterogeneity

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