Mutant LRIF1 gene associated with facioscapulohumeral muscular dystrophy

Takeaway

  • Variant in the LRIF1 gene linked to idiopathic facioscapulohumeral muscular dystrophy.

Why this matters

    The findings provide further evidence that facioscapulohumeral muscular dystrophy is caused by inappropriate expression of DUX4 in skeletal muscle. Therefore, people affected by this disease should be considered for therapeutic trials targeting DUX4 expression or function.