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

Submitted: 22 June 2016
Accepted: 29 July 2016
Published: 15 December 2016
Abstract Views: 1506
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Authors

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.

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Supporting Agencies

Supported by NIH grant 2PO1 AR 052354-06A1 to P.D. Allen (CFA core leader)
Philip M. Hopkins, Malignant Hyperthermia Unit, Leeds Institute of Biomedical and Clinical Sciences, St James’s University Hospital, Leeds
Director of Leeds Biomedical institute

How to Cite

Lavorato, M., Gupta, P. K., Hopkins, P. M., & Franzini-Armstrong, C. (2016). Skeletal muscle microalterations in patients carrying Malignant Hyperthermia-related mutations of the e-c coupling machinery. European Journal of Translational Myology, 26(4). https://doi.org/10.4081/ejtm.2016.6105