Introduction: Cylindrical spirals are characteristic muscular inclusions consisting of spiraling double-laminated membranes. They are found in heterogeneous clinical conditions.
Methods: We obtained muscle biopsies from 2 young sisters with severe congenital hypotonia, muscle weakness, and epileptic encephalopathy, and identified cylindrical spirals.
Results: We found an association between congenital encephalomyopathy and cylindrical spirals.
Conclusions: In this morphological and ultrastructural study, we speculate on the origin of these peculiar structures.
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