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Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery
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-r...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
PAGEPress Publications, Pavia, Italy
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5220216/ https://www.ncbi.nlm.nih.gov/pubmed/28078069 http://dx.doi.org/10.4081/ejtm.2016.6105 |
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author | Lavorato, Manuela Gupta, Pawan K Hopkins, Philip M Franzini-Armstrong, Clara |
author_facet | Lavorato, Manuela Gupta, Pawan K Hopkins, Philip M Franzini-Armstrong, Clara |
author_sort | Lavorato, Manuela |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-5220216 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | PAGEPress Publications, Pavia, Italy |
record_format | MEDLINE/PubMed |
spelling | pubmed-52202162017-01-11 Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery Lavorato, Manuela Gupta, Pawan K Hopkins, Philip M Franzini-Armstrong, Clara Eur J Transl Myol Myology Made in Italy 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. PAGEPress Publications, Pavia, Italy 2016-12-15 /pmc/articles/PMC5220216/ /pubmed/28078069 http://dx.doi.org/10.4081/ejtm.2016.6105 Text en http://creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution Noncommercial License (by-nc 4.0) which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited. |
spellingShingle | Myology Made in Italy Lavorato, Manuela Gupta, Pawan K Hopkins, Philip M Franzini-Armstrong, Clara Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery |
title | Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery |
title_full | Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery |
title_fullStr | Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery |
title_full_unstemmed | Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery |
title_short | Skeletal Muscle Microalterations in Patients Carrying Malignant Hyperthermia-Related Mutations of the e-c Coupling Machinery |
title_sort | skeletal muscle microalterations in patients carrying malignant hyperthermia-related mutations of the e-c coupling machinery |
topic | Myology Made in Italy |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5220216/ https://www.ncbi.nlm.nih.gov/pubmed/28078069 http://dx.doi.org/10.4081/ejtm.2016.6105 |
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