Lavorato, M, Gupta, PK, Hopkins, PM orcid.org/0000-0002-8127-1739 et al. (1 more author) (2016) Skeletal muscle microalterations in patients carrying Malignant Hyperthermia-related mutations of the e-c coupling machinery. European Journal of Translational Myology, 26 (4). pp. 323-332. ISSN 2037-7452
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.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | Copyright (c) 2016 Manuela Lavorato, Pawan K. Gupta, Philip M. Hopkins, Clara Franzini-Armstrong. This article is distributed under the terms of the Creative Commons Attribution Noncommercial License (CC BY-NC 4.0) which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited. |
Keywords: | Malignant hyperthermia, Ultrastructure, Skeletal Muscle, Mitochondria |
Dates: |
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Institution: | The University of Leeds |
Academic Units: | The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Inst of Biomed & Clin Sciences (LIBACS) (Leeds) > Trans Anaesthetics & Surgical Sciences (Leeds) |
Funding Information: | Funder Grant number National Institute of Health - DELETED Not Known |
Depositing User: | Symplectic Publications |
Date Deposited: | 10 Aug 2016 11:30 |
Last Modified: | 23 Jun 2023 22:11 |
Published Version: | https://doi.org/10.4081/ejtm.2016.6105 |
Status: | Published |
Publisher: | PAGEpress |
Identification Number: | 10.4081/ejtm.2016.6105 |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:103404 |