X-linked recessive myotubular myopathy with MTM1 mutations

X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagn...

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Main Authors:	Han, Young-Mi, Kwon, Kyoung-Ah, Lee, Yun-Jin, Nam, Sang-Ook, Park, Kyung-Hee, Byun, Shin-Yun, Kim, Gu-Hwan, Yoo, Han-Wook
Format:	Online
Language:	English
Published:	The Korean Pediatric Society 2013
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3611049/

id	pubmed-3611049
recordtype	oai_dc
spelling	pubmed-36110492013-04-04 X-linked recessive myotubular myopathy with MTM1 mutations Han, Young-Mi Kwon, Kyoung-Ah Lee, Yun-Jin Nam, Sang-Ook Park, Kyung-Hee Byun, Shin-Yun Kim, Gu-Hwan Yoo, Han-Wook Case Report X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagnosis is based on typical histopathological findings on muscle biopsy, combined with suggestive clinical features. We experienced a case of a newborn who required intubation and ventilator care because of profound hypotonia and respiratory difficulty. The preliminary diagnosis at the time of request for retrieval was hypoxic ischemic encephalopathy, but the infant was clinically reevaluated for generalized weakness and muscle atrophy. Muscle biopsies showed variability in fiber size and centrally located nuclei in nearly all the fibers. We detected an MTM1 gene mutation of c.1261-1C>A in the intron 10 region, and diagnosed the neonate with myotubular myopathy. The same mutation was detected in his mother. The Korean Pediatric Society 2013-03 2013-03-18 /pmc/articles/PMC3611049/ /pubmed/23559977 http://dx.doi.org/10.3345/kjp.2013.56.3.139 Text en Copyright © 2013 by The Korean Pediatric Society http://creativecommons.org/licenses/by-nc/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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	Han, Young-Mi Kwon, Kyoung-Ah Lee, Yun-Jin Nam, Sang-Ook Park, Kyung-Hee Byun, Shin-Yun Kim, Gu-Hwan Yoo, Han-Wook
spellingShingle	Han, Young-Mi Kwon, Kyoung-Ah Lee, Yun-Jin Nam, Sang-Ook Park, Kyung-Hee Byun, Shin-Yun Kim, Gu-Hwan Yoo, Han-Wook X-linked recessive myotubular myopathy with MTM1 mutations
author_facet	Han, Young-Mi Kwon, Kyoung-Ah Lee, Yun-Jin Nam, Sang-Ook Park, Kyung-Hee Byun, Shin-Yun Kim, Gu-Hwan Yoo, Han-Wook
author_sort	Han, Young-Mi
title	X-linked recessive myotubular myopathy with MTM1 mutations
title_short	X-linked recessive myotubular myopathy with MTM1 mutations
title_full	X-linked recessive myotubular myopathy with MTM1 mutations
title_fullStr	X-linked recessive myotubular myopathy with MTM1 mutations
title_full_unstemmed	X-linked recessive myotubular myopathy with MTM1 mutations
title_sort	x-linked recessive myotubular myopathy with mtm1 mutations
description	X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagnosis is based on typical histopathological findings on muscle biopsy, combined with suggestive clinical features. We experienced a case of a newborn who required intubation and ventilator care because of profound hypotonia and respiratory difficulty. The preliminary diagnosis at the time of request for retrieval was hypoxic ischemic encephalopathy, but the infant was clinically reevaluated for generalized weakness and muscle atrophy. Muscle biopsies showed variability in fiber size and centrally located nuclei in nearly all the fibers. We detected an MTM1 gene mutation of c.1261-1C>A in the intron 10 region, and diagnosed the neonate with myotubular myopathy. The same mutation was detected in his mother.
publisher	The Korean Pediatric Society
publishDate	2013
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3611049/
_version_	1611966147958145024

X-linked recessive myotubular myopathy with MTM1 mutations

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