Skeletal muscle microalterations in patients carrying Malignant Hyperthermia-related mutations of the e-c coupling machinery

Main Article Content

Manuela Lavorato *
Pawan K. Gupta
Philip M. Hopkins
Clara Franzini-Armstrong
(*) Corresponding Author:
Manuela Lavorato |


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.

Downloads month by month


Download data is not yet available.

Article Details

Author Biography

Philip M. Hopkins, Malignant Hyperthermia Unit, Leeds Institute of Biomedical and Clinical Sciences, St James’s University Hospital, Leeds

Director of Leeds Biomedical institute