Neuromuscular disorders : NMD
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Neuromuscul. Disord. · Sep 1993
Pathological findings in 165 patients explored for malignant hyperthermia susceptibility.
The pathological findings in 165 patients explored for malignant hyperthermia (MH) susceptibility are reported. The first group of 120 subjects were patients investigated for MH. These patients had suffered an attack of MH under anaesthetic or were members of families in which a subject had died of MH. ⋯ Central core myopathy was only observed in the first subgroup and was the only disease significantly associated with MH. In contrast to previous reports, this study demonstrates the absence of a specific malignant hyperthermia or exertional heat stroke myopathy. Furthermore, the discovery of MHS subjects among the EHS group of patients highlights the need for systematic exploration of all these patients.
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Neuromuscul. Disord. · Sep 1993
Case ReportsMalignant hyperthermia and central core disease: analysis of two families with heterogeneous clinical expression.
We report two families both presenting with malignant hyperthermia susceptibility and "core" or "core-like" changes in the muscle tissue. Combined analysis of the malignant hyperthermia phenotype and the histochemical findings demonstrates the complexity of their association and highly suggests genetic heterogeneity of malignant hyperthermia and central core diseases.