Article

A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity

2021-11-04

Abstract excerpt

The major determinant of disease severity in patients with severe Duchenne muscular dystrophy (DMD) or milder Becker muscular dystrophy (BMD) is whether their dystrophin gene ( DMD ) mutation disrupts the mRNA reading frame or allows expression of a partially functional protein. However, even in the complete absence of dystrophin, variability in disease severity is observed, and candidate gene studies have implica...

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Literature Corpus work: fa80ccb2-1651-5945-a76c-d262d9a93536
DOI: 10.1101/2021.11.03.21265887

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