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

Montse Olivé, Zagaa Odgerel, Amaia Martínez, Juan José Poza, Federico García Bragado, Ramón J Zabalza, Ivonne Jericó, Laura Gonzalez-Mera, Alexey Shatunov, Hee Suk Lee, Judith Armstrong, Elías Maraví, Maria Ramos Arroyo, Jordi Pascual-Calvet, Carmen Navarro, Carmen Paradas, Mariano Huerta, Fabian Marquez, Eduardo Gutierrez- Rivas, Adolf PouIsidre Ferrer, Lev G Goldfarb

    Research output: Contribution to journalArticlepeer-review

    78 Citations (Scopus)


    Myofibrillar myopathies (MFM) are a group of disorders associated with mutations in DES, CRYAB, MYOT, ZASP, FLNC, or BAG3 genes and characterized by disintegration of myofibrils and accumulation of degradation products into intracellular inclusions. We retrospectively evaluated 53 MFM 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 MYOT 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.

    Original languageEnglish
    Pages (from-to)533-42
    Number of pages10
    JournalNeuromuscular Disorders
    Issue number8
    Publication statusPublished - Aug 2011


    • Adaptor Proteins, Signal Transducing
    • Adolescent
    • Adult
    • Age of Onset
    • Aged
    • Biopsy
    • Connectin
    • Cytoskeletal Proteins
    • Desmin
    • Female
    • Humans
    • LIM Domain Proteins
    • Magnetic Resonance Imaging
    • Male
    • Middle Aged
    • Muscle Proteins
    • Muscular Diseases
    • Mutation
    • Myofibrils
    • Phenotype
    • Retrospective Studies
    • Spain
    • Young Adult
    • Journal Article
    • Research Support, N.I.H., Extramural
    • Research Support, N.I.H., Intramural
    • Research Support, Non-U.S. Gov't


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