Limb-girdle muscular dystrophy with slow progression is linked to a novel mutation in TNPO3

Takeaway

  • A genetic mutation in the transportin-3 gene (TNPO3) causes early-onset myopathy with slow progression.

Why this matters

    Identifying novel mutations associated with limb-girdle muscular dystrophies may explain the variability seen in clinical phenotypes and histopathologic findings and help elucidate the molecular pathophysiology behind it.