Please use this identifier to cite or link to this item: http://hdl.handle.net/2445/126272
Title: Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy
Author: Olivé i Plana, Montserrat
Odgerel, Zagaa
Martínez, Amaia
Poza, Juan José
García Bragado, Federico
Zabalza, Ramón J.
Jericó, Ivonne
González Mera, Laura
Shatunov, Alexei
Lee, Hee Suk
Armstrong i Morón, Judith
Maraví, Elías
Ramos Arroyo, María
Pascual Calvet, Jordi
Navarro, Carmen
Paradas, Carmen
Huerta, Mariano
Márquez, Fabian
Gutierrez Rivas, Eduardo
Pou, Adolf
Ferrer, Isidro (Ferrer Abizanda)
Goldfarb, Lev G.
Keywords: Malalties musculars
Genètica
Malalties hereditàries
Espanya
Muscular Diseases
Genetics
Genetic diseases
Spain
Issue Date: 14-Jun-2011
Publisher: Elsevier B.V.
Abstract: 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.
Note: Versió postprint del document publicat a: https://doi.org/10.1016/j.nmd.2011.05.002
It is part of: Neuromuscular Disorders, 2011, vol. 21, num. 8, p. 533-542
URI: http://hdl.handle.net/2445/126272
Related resource: https://doi.org/10.1016/j.nmd.2011.05.002
ISSN: 0960-8966
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Articles publicats en revistes (Patologia i Terapèutica Experimental)

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