SYNE 1 mutations associated with the pathology of neuromuscular diseases

Takeaway

  • Findings indicate that SYNE 1 mutation–associated ultrastructural nuclear envelope (NE) alterations and thumb abnormalities are general features of rare neuromuscular diseases.

Why this matters

    Understanding the pathological hallmarks of SYNE 1 mutations that affect nesprin proteins may shed light on the mechanisms of neuromuscular diseases.