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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Detalles Bibliográficos
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
Descripción
Sumario: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.

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