Extensive morphological and immunohistochemical characterization in myotubular myopathy

The X-linked myotubular myopathy (XLMTM) also called X-linked centronuclear myopathy is a rare congenital myopathy due to mutations in the MTM1 gene encoding myotubularin. The disease gives rise to a severe muscle weakness in males at birth. The main muscle morphological characteristics (significant...

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Main Authors:	Shichiji, Minobu, Biancalana, Valérie, Fardeau, Michel, Hogrel, Jean-Yves, Osawa, Makiko, Laporte, Jocelyn, Romero, Norma Beatriz
Format:	Online
Language:	English
Published:	Blackwell Publishing Inc 2013
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869686/

id	pubmed-3869686
recordtype	oai_dc
spelling	pubmed-38696862013-12-31 Extensive morphological and immunohistochemical characterization in myotubular myopathy Shichiji, Minobu Biancalana, Valérie Fardeau, Michel Hogrel, Jean-Yves Osawa, Makiko Laporte, Jocelyn Romero, Norma Beatriz Original Research The X-linked myotubular myopathy (XLMTM) also called X-linked centronuclear myopathy is a rare congenital myopathy due to mutations in the MTM1 gene encoding myotubularin. The disease gives rise to a severe muscle weakness in males at birth. The main muscle morphological characteristics (significant number of small muscle fibers with centralized nuclei and type 1 fiber predominance) are usually documented, but the sequence of formation and maintenance of this particular morphological pattern has not been extensively characterized in humans. In this study, we perform a reevaluation of morphological changes in skeletal muscle biopsies in severe XLMTM. We correlate the pathologic features observed in the muscle biopsies of 15 newborns with MTM1-mutations according to the “adjusted-age” at the time of muscle biopsy, focusing on sequential analysis in the early period of the life (from 34 weeks of gestation to 3 months of age). We found a similar morphological pattern throughout the period analyzed; the proportion of myofibers with central nuclei was high in all muscle biopsies, independently of the muscle type, the age of the newborns at time of biopsy and the specific MTM1 mutation. We did not observe a period free of morphological abnormalities in human skeletal muscle as observed in myotubularin-deficient mouse models. In addition, this study demonstrated some features of delayed maturation of the muscle fibers without any increase in the number of satellite cells, associated with a marked disorganization of the muscle T-tubules and cytoskeletal network in the skeletal muscle fibers. Blackwell Publishing Inc 2013-07 2013-06-19 /pmc/articles/PMC3869686/ /pubmed/24381816 http://dx.doi.org/10.1002/brb3.147 Text en © 2013 The Authors. Brain and Behavior published by Wiley Periodicals, Inc. http://creativecommons.org/licenses/by/2.5/ Re-use of this article is permitted in accordance with the Creative Commons Deed, Attribution 2.5, which does not permit commercial exploitation.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Shichiji, Minobu Biancalana, Valérie Fardeau, Michel Hogrel, Jean-Yves Osawa, Makiko Laporte, Jocelyn Romero, Norma Beatriz
spellingShingle	Shichiji, Minobu Biancalana, Valérie Fardeau, Michel Hogrel, Jean-Yves Osawa, Makiko Laporte, Jocelyn Romero, Norma Beatriz Extensive morphological and immunohistochemical characterization in myotubular myopathy
author_facet	Shichiji, Minobu Biancalana, Valérie Fardeau, Michel Hogrel, Jean-Yves Osawa, Makiko Laporte, Jocelyn Romero, Norma Beatriz
author_sort	Shichiji, Minobu
title	Extensive morphological and immunohistochemical characterization in myotubular myopathy
title_short	Extensive morphological and immunohistochemical characterization in myotubular myopathy
title_full	Extensive morphological and immunohistochemical characterization in myotubular myopathy
title_fullStr	Extensive morphological and immunohistochemical characterization in myotubular myopathy
title_full_unstemmed	Extensive morphological and immunohistochemical characterization in myotubular myopathy
title_sort	extensive morphological and immunohistochemical characterization in myotubular myopathy
description	The X-linked myotubular myopathy (XLMTM) also called X-linked centronuclear myopathy is a rare congenital myopathy due to mutations in the MTM1 gene encoding myotubularin. The disease gives rise to a severe muscle weakness in males at birth. The main muscle morphological characteristics (significant number of small muscle fibers with centralized nuclei and type 1 fiber predominance) are usually documented, but the sequence of formation and maintenance of this particular morphological pattern has not been extensively characterized in humans. In this study, we perform a reevaluation of morphological changes in skeletal muscle biopsies in severe XLMTM. We correlate the pathologic features observed in the muscle biopsies of 15 newborns with MTM1-mutations according to the “adjusted-age” at the time of muscle biopsy, focusing on sequential analysis in the early period of the life (from 34 weeks of gestation to 3 months of age). We found a similar morphological pattern throughout the period analyzed; the proportion of myofibers with central nuclei was high in all muscle biopsies, independently of the muscle type, the age of the newborns at time of biopsy and the specific MTM1 mutation. We did not observe a period free of morphological abnormalities in human skeletal muscle as observed in myotubularin-deficient mouse models. In addition, this study demonstrated some features of delayed maturation of the muscle fibers without any increase in the number of satellite cells, associated with a marked disorganization of the muscle T-tubules and cytoskeletal network in the skeletal muscle fibers.
publisher	Blackwell Publishing Inc
publishDate	2013
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869686/
_version_	1612040387758653440

Extensive morphological and immunohistochemical characterization in myotubular myopathy

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