A case of “myopathy with tubular aggregates” with increased muscle fibre sensitivity to caffeine

A 23-year-old man with “myopathy with tubular aggregates” had suffered from exercise-induced muscle cramps for 1 year. His general and neurological findings were normal. Laboratory investigations were within normal limits except for a slightly elevated serum creatine kinase level. Muscle biopsy showed some small angular fibres and scattered type 2B fibres with prominent tubular aggregates originating from the sarcoplasmic reticulum. Since the muscle fibres contracted at a lower concentration of caffeine, increased muscle fibre sensitivity to caffeine is probably related to muscle cramps in this disorder. Tubular aggregates are then secondarily formed in the muscle fibres.