Hopes for a biomarker-based diagnostic test for facioscapulohumeral muscular dystrophy

摘要

A biomarker-based test for diagnosing facioscapulohumeral muscular dystrophy (FSHD) has moved one step closer owing to the latest in a series of discoveries by a group of scientists from the Fred Hutchinson Cancer Research Center (Seattle, WA, USA).The group have already identified key genes and proteins in addition to several discoveries regarding the disease mechanisms of FSHD; the third most common type of inherited muscular dystrophy.In the most recent study, evidence has been accumulated to support how the transcription factor DUX4 can cause FSHD.