- •A rare case of malignant hyperthermia was observed in a 4-year-old child.
- •Muscle biopsy showed cylindrical spirals in the subsarcolemmal area.
- •Cylindrical spirals are possibly linked to altered Ca2+ metabolism.
- •First study to reveal the association between spirals and malignant hyperthermia.
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- Cylindrical spirals in two families: clinical and genetic investigations.Neuromuscul Disord. 2020; 30: 151-158https://doi.org/10.1016/j.nmd.2019.12.006
- Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy.Muscle Nerve. 2015; 52: 895-899https://doi.org/10.1002/mus.24699