Article

Single-molecule optical mapping enables accurate molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD)

2018-03-21

Abstract excerpt

<h4>ABSTRACT</h4> Facioscapulohumeral Muscular Dystrophy (FSHD) is a common adult muscular dystrophy in which the muscles of the face, shoulder blades and upper arms are among the most affected. FSHD is the only disease in which “junk” DNA is reactivated to cause disease, and the only known repeat array-related disease where fewer repeats cause disease. More than 95% of FSHD cases are associated with copy number...

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Literature Corpus work: 977b259f-cdbc-58f7-a1fe-76d2e18fd708
DOI: 10.1101/286104

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