Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.

Rimmed vacuoles in myofibers are thought to be due to the accumulation of autophagic vacuoles, and can be characteristic in certain myopathies with protein inclusions in myofibers. In this study, we performed a detailed clinical, molecular, and pathological characterization of Becker muscular dystro...

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Autores principales:	Kazunari Momma, Satoru Noguchi, May Christine V Malicdan, Yukiko K Hayashi, Narihiro Minami, Keiko Kamakura, Ikuya Nonaka, Ichizo Nishino
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/c11a71fbb4094d2c8c81c23c9fbc2253
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id	oai:doaj.org-article:c11a71fbb4094d2c8c81c23c9fbc2253
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spelling	oai:doaj.org-article:c11a71fbb4094d2c8c81c23c9fbc22532021-11-18T08:05:03ZRimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.1932-620310.1371/journal.pone.0052002https://doaj.org/article/c11a71fbb4094d2c8c81c23c9fbc22532012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23251671/?tool=EBIhttps://doaj.org/toc/1932-6203Rimmed vacuoles in myofibers are thought to be due to the accumulation of autophagic vacuoles, and can be characteristic in certain myopathies with protein inclusions in myofibers. In this study, we performed a detailed clinical, molecular, and pathological characterization of Becker muscular dystrophy patients who have rimmed vacuoles in muscles. Among 65 Becker muscular dystrophy patients, we identified 12 patients who have rimmed vacuoles and 11 patients who have deletions in exons 45-48 in DMD gene. All patients having rimmed vacuoles showed milder clinical features compared to those without rimmed vacuoles. Interestingly, the rimmed vacuoles in Becker muscular dystrophy muscles seem to represent autophagic vacuoles and are also associated with polyubiquitinated protein aggregates. These findings support the notion that rimmed vacuoles can appear in Becker muscular dystrophy, and may be related to the chronic changes in muscle pathology induced by certain mutations in the DMD gene.Kazunari MommaSatoru NoguchiMay Christine V MalicdanYukiko K HayashiNarihiro MinamiKeiko KamakuraIkuya NonakaIchizo NishinoPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 12, p e52002 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Kazunari Momma Satoru Noguchi May Christine V Malicdan Yukiko K Hayashi Narihiro Minami Keiko Kamakura Ikuya Nonaka Ichizo Nishino Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.
description	Rimmed vacuoles in myofibers are thought to be due to the accumulation of autophagic vacuoles, and can be characteristic in certain myopathies with protein inclusions in myofibers. In this study, we performed a detailed clinical, molecular, and pathological characterization of Becker muscular dystrophy patients who have rimmed vacuoles in muscles. Among 65 Becker muscular dystrophy patients, we identified 12 patients who have rimmed vacuoles and 11 patients who have deletions in exons 45-48 in DMD gene. All patients having rimmed vacuoles showed milder clinical features compared to those without rimmed vacuoles. Interestingly, the rimmed vacuoles in Becker muscular dystrophy muscles seem to represent autophagic vacuoles and are also associated with polyubiquitinated protein aggregates. These findings support the notion that rimmed vacuoles can appear in Becker muscular dystrophy, and may be related to the chronic changes in muscle pathology induced by certain mutations in the DMD gene.
format	article
author	Kazunari Momma Satoru Noguchi May Christine V Malicdan Yukiko K Hayashi Narihiro Minami Keiko Kamakura Ikuya Nonaka Ichizo Nishino
author_facet	Kazunari Momma Satoru Noguchi May Christine V Malicdan Yukiko K Hayashi Narihiro Minami Keiko Kamakura Ikuya Nonaka Ichizo Nishino
author_sort	Kazunari Momma
title	Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.
title_short	Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.
title_full	Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.
title_fullStr	Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.
title_full_unstemmed	Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.
title_sort	rimmed vacuoles in becker muscular dystrophy have similar features with inclusion myopathies.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/c11a71fbb4094d2c8c81c23c9fbc2253
work_keys_str_mv	AT kazunarimomma rimmedvacuolesinbeckermusculardystrophyhavesimilarfeatureswithinclusionmyopathies AT satorunoguchi rimmedvacuolesinbeckermusculardystrophyhavesimilarfeatureswithinclusionmyopathies AT maychristinevmalicdan rimmedvacuolesinbeckermusculardystrophyhavesimilarfeatureswithinclusionmyopathies AT yukikokhayashi rimmedvacuolesinbeckermusculardystrophyhavesimilarfeatureswithinclusionmyopathies AT narihirominami rimmedvacuolesinbeckermusculardystrophyhavesimilarfeatureswithinclusionmyopathies AT keikokamakura rimmedvacuolesinbeckermusculardystrophyhavesimilarfeatureswithinclusionmyopathies AT ikuyanonaka rimmedvacuolesinbeckermusculardystrophyhavesimilarfeatureswithinclusionmyopathies AT ichizonishino rimmedvacuolesinbeckermusculardystrophyhavesimilarfeatureswithinclusionmyopathies
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Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.

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