title: Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery.
abstract: We have compared the ultrastructure of skeletal muscle biopsies from patients that have survived a [Malignant Hyperthermia, MH] episode and siblings that test positive for MH susceptibility with those from siblings that tested negatives. The aim is to establish whether life long exposure to the MH-related mutation effects may result in subtle abnormalities even in the absence of active episodes and/or clinically detectable deficiencies. Although a specific ultrastructural signature for MH mutants cannot be demonstrated, an MH related pattern of minor alterations does exist. These include the tendency for micro damage to the contractile apparatus and a higher than normal level of mitochondrial abnormalities.
authors.affiliation: Department of Cell and Developmental Biology, University of Pennsylvania School of Medicine , Philadelphia PA, USA.
authors.forename: Manuela
authors.initials: M
authors.lastname: Lavorato
authors.affiliation: Malignant Hyperthermia Unit, Leeds Institute of Biomedical and Clinical Sciences, St James's University Hospital , Leeds, UK.
authors.forename: Pawan K
authors.initials: PK
authors.lastname: Gupta
authors.affiliation: Malignant Hyperthermia Unit, Leeds Institute of Biomedical and Clinical Sciences, St James's University Hospital , Leeds, UK.
authors.forename: Philip M
authors.initials: PM
authors.lastname: Hopkins
authors.affiliation: Department of Cell and Developmental Biology, University of Pennsylvania School of Medicine , Philadelphia PA, USA.
authors.forename: Clara
authors.initials: C
authors.lastname: Franzini-Armstrong
keywords: Malignant hyperthermia; Mitochondria; Skeletal Muscle; Ultrastructure