Wide spectrum of clinical features seen in Japan’s most common nemaline myopathy, ADSSL1

Takeaway

  • ADSSL1 myopathy is the most common nemaline myopathy in Japan and manifests with a wide clinical spectrum including respiratory and cardiac dysfunction.

Why this matters

    These novel findings suggest that ADSSL1 myopathy may be more common than previously recognized. The disease should be considered in people with a childhood history of being the slowest runner among peers and who are easily fatigued in adulthood.