Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

Olivé i Plana, Montserrat; Odgerel, Zagaa; Martínez, Amaia; Poza, Juan José; García Bragado, Federico; Zabalza, Ramón J.; Jericó, Ivonne; González Mera, Laura; Shatunov, Alexey; Lee, Hee Suk; Armstrong i Morón, Judith; Maraví, Elías; Ramos Arroyo, María; Pascual Calvet, Jordi; Navarro, Carmen; Paradas, Carmen; Huerta Villanueva, Mariano; Márquez, Fabian; Gutierrez Rivas, Eduardo; Pou, Adolf; Ferrer, Isidro (Ferrer Abizanda); Goldfarb, Lev G.

Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

Myofibrillar myopathies (MFM) are a group of disorders associated with mutations in DES, CRY A B, M YOT, ZASP, FLNC, or BAG3 genes and characterized by disintegration of myofibrils and accumulation of degradation products into intracellular inclusions. We retrospectively evaluated 53 M FM patients f...

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Autores:	Olivé i Plana, Montserrat, Odgerel, Zagaa, Martínez, Amaia, Poza, Juan José, García Bragado, Federico, Zabalza, Ramón J., Jericó, Ivonne, González Mera, Laura, Shatunov, Alexey, Lee, Hee Suk, Armstrong i Morón, Judith, Maraví, Elías, Ramos Arroyo, María, Pascual Calvet, Jordi, Navarro, Carmen, Paradas, Carmen, Huerta Villanueva, Mariano, Márquez, Fabian, Gutierrez Rivas, Eduardo, Pou, Adolf, Ferrer, Isidro (Ferrer Abizanda), Goldfarb, Lev G.
Tipo de recurso:	artículo
Estado:	Versión aceptada para publicación
Fecha de publicación:	2011
País:	España
Institución:	Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:	Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:	oai:recercat.cat:2445/126272
Acceso en línea:	https://hdl.handle.net/2445/126272
Access Level:	acceso abierto
Palabra clave:	Malalties musculars Genètica Malalties hereditàries Espanya Muscular Diseases Genetics Genetic diseases Spain

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spelling	Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathyOlivé i Plana, MontserratOdgerel, ZagaaMartínez, AmaiaPoza, Juan JoséGarcía Bragado, FedericoZabalza, Ramón J.Jericó, IvonneGonzález Mera, LauraShatunov, AlexeyLee, Hee SukArmstrong i Morón, JudithMaraví, ElíasRamos Arroyo, MaríaPascual Calvet, JordiNavarro, CarmenParadas, CarmenHuerta Villanueva, MarianoMárquez, FabianGutierrez Rivas, EduardoPou, AdolfFerrer, Isidro (Ferrer Abizanda)Goldfarb, Lev G.Malalties muscularsGenèticaMalalties hereditàriesEspanyaMuscular DiseasesGeneticsGenetic diseasesSpainMyofibrillar myopathies (MFM) are a group of disorders associated with mutations in DES, CRY A B, M YOT, ZASP, FLNC, or BAG3 genes and characterized by disintegration of myofibrils and accumulation of degradation products into intracellular inclusions. We retrospectively evaluated 53 M FM patients from 35 Spanish families. Studies included neurologic exam, muscle imaging, light and electron microscopic analysis of muscle biopsy, respiratory function testing and cardiologic work-up. Search for pathogenic mutations was accomplished by sequencing of coding regions of the six genes known to cause MFM. Mutations in M YOT were the predominant cause of MFM in Spain affecting 18 of 35 families, followed by DES in 11 and ZASP in 3; in 3 families the cause of MFM remains undetermined. Comparative analysis of DES, MYOT and ZASP associated phenotypes demonstrates substantial phenotypic distinctions that should be considered in studies of disease pathogenesis, for optimization of subtype-specific treatments and management, and directing molecular analysis. (C) 2011 Elsevier B.V. All rights reserved.Elsevier B.V.2018201820112018info:eu-repo/semantics/articleinfo:eu-repo/semantics/acceptedVersion10 p.application/pdfhttps://hdl.handle.net/2445/126272Articles publicats en revistes (Patologia i Terapèutica Experimental)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésVersió postprint del document publicat a: https://doi.org/10.1016/j.nmd.2011.05.002Neuromuscular Disorders, 2011, vol. 21, num. 8, p. 533-542https://doi.org/10.1016/j.nmd.2011.05.002(c) Elsevier B.V., 2011info:eu-repo/semantics/openAccessoai:recercat.cat:2445/1262722026-05-29T05:05:01Z
dc.title.none.fl_str_mv	Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy
title	Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy
spellingShingle	Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy Olivé i Plana, Montserrat Malalties musculars Genètica Malalties hereditàries Espanya Muscular Diseases Genetics Genetic diseases Spain
title_short	Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy
title_full	Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy
title_fullStr	Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy
title_full_unstemmed	Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy
title_sort	Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy
dc.creator.none.fl_str_mv	Olivé i Plana, Montserrat Odgerel, Zagaa Martínez, Amaia Poza, Juan José García Bragado, Federico Zabalza, Ramón J. Jericó, Ivonne González Mera, Laura Shatunov, Alexey Lee, Hee Suk Armstrong i Morón, Judith Maraví, Elías Ramos Arroyo, María Pascual Calvet, Jordi Navarro, Carmen Paradas, Carmen Huerta Villanueva, Mariano Márquez, Fabian Gutierrez Rivas, Eduardo Pou, Adolf Ferrer, Isidro (Ferrer Abizanda) Goldfarb, Lev G.
author	Olivé i Plana, Montserrat
author_facet	Olivé i Plana, Montserrat Odgerel, Zagaa Martínez, Amaia Poza, Juan José García Bragado, Federico Zabalza, Ramón J. Jericó, Ivonne González Mera, Laura Shatunov, Alexey Lee, Hee Suk Armstrong i Morón, Judith Maraví, Elías Ramos Arroyo, María Pascual Calvet, Jordi Navarro, Carmen Paradas, Carmen Huerta Villanueva, Mariano Márquez, Fabian Gutierrez Rivas, Eduardo Pou, Adolf Ferrer, Isidro (Ferrer Abizanda) Goldfarb, Lev G.
author_role	author
author2	Odgerel, Zagaa Martínez, Amaia Poza, Juan José García Bragado, Federico Zabalza, Ramón J. Jericó, Ivonne González Mera, Laura Shatunov, Alexey Lee, Hee Suk Armstrong i Morón, Judith Maraví, Elías Ramos Arroyo, María Pascual Calvet, Jordi Navarro, Carmen Paradas, Carmen Huerta Villanueva, Mariano Márquez, Fabian Gutierrez Rivas, Eduardo Pou, Adolf Ferrer, Isidro (Ferrer Abizanda) Goldfarb, Lev G.
author2_role	author author author author author author author author author author author author author author author author author author author author author
dc.subject.none.fl_str_mv	Malalties musculars Genètica Malalties hereditàries Espanya Muscular Diseases Genetics Genetic diseases Spain
topic	Malalties musculars Genètica Malalties hereditàries Espanya Muscular Diseases Genetics Genetic diseases Spain
description	Myofibrillar myopathies (MFM) are a group of disorders associated with mutations in DES, CRY A B, M YOT, ZASP, FLNC, or BAG3 genes and characterized by disintegration of myofibrils and accumulation of degradation products into intracellular inclusions. We retrospectively evaluated 53 M FM patients from 35 Spanish families. Studies included neurologic exam, muscle imaging, light and electron microscopic analysis of muscle biopsy, respiratory function testing and cardiologic work-up. Search for pathogenic mutations was accomplished by sequencing of coding regions of the six genes known to cause MFM. Mutations in M YOT were the predominant cause of MFM in Spain affecting 18 of 35 families, followed by DES in 11 and ZASP in 3; in 3 families the cause of MFM remains undetermined. Comparative analysis of DES, MYOT and ZASP associated phenotypes demonstrates substantial phenotypic distinctions that should be considered in studies of disease pathogenesis, for optimization of subtype-specific treatments and management, and directing molecular analysis. (C) 2011 Elsevier B.V. All rights reserved.
publishDate	2011
dc.date.none.fl_str_mv	2011 2018 2018 2018
dc.type.none.fl_str_mv	info:eu-repo/semantics/article info:eu-repo/semantics/acceptedVersion
format	article
status_str	acceptedVersion
dc.identifier.none.fl_str_mv	https://hdl.handle.net/2445/126272
url	https://hdl.handle.net/2445/126272
dc.language.none.fl_str_mv	Inglés
language_invalid_str_mv	Inglés
dc.relation.none.fl_str_mv	Versió postprint del document publicat a: https://doi.org/10.1016/j.nmd.2011.05.002 Neuromuscular Disorders, 2011, vol. 21, num. 8, p. 533-542 https://doi.org/10.1016/j.nmd.2011.05.002
dc.rights.none.fl_str_mv	(c) Elsevier B.V., 2011 info:eu-repo/semantics/openAccess
rights_invalid_str_mv	(c) Elsevier B.V., 2011
eu_rights_str_mv	openAccess
dc.format.none.fl_str_mv	10 p. application/pdf
dc.publisher.none.fl_str_mv	Elsevier B.V.
publisher.none.fl_str_mv	Elsevier B.V.
dc.source.none.fl_str_mv	Articles publicats en revistes (Patologia i Terapèutica Experimental) reponame:Recercat. Dipósit de la Recerca de Catalunya instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str	Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str	Recercat. Dipósit de la Recerca de Catalunya
collection	Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

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