Highly variable ultrastructural findings in KBTBD13-nemaline myopathy (NEM6)

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KBTBD13 myopathy (NEM6) is a rare autosomal dominant congenital myopathy characterized by early onset axial and proximal muscle weakness, poor exercise tolerance, and characteristic slowness of movements. Muscle biopsy analyses revealed the presence of numerous rods and unstructured cores, associated with type 1 fiber hypertrophy and type 2 atrophy. KBTBD13 is a BTB/Kelch family protein whose role in skeletal muscle is largely unknown. In an attempt to better characterize histopathologic findings in KBTBD13 muscles and suggest pathophysiologic mechanisms we performed detailed electron microscopy analysis in 13 muscle samples from affected subjects.

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