Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

Monica Ohlsson, Carola Hedberg, Björn Brådvik, Christopher Lindberg, Homa Tajsharghi, Olof Danielsson, Atle Melberg, Bjarne Udd, Tommy Martinsson, Anders Oldfors

    Research output: Contribution to journalArticleScientificpeer-review

    93 Citations (Scopus)
    Original languageEnglish
    Pages (from-to)1682-1694
    JournalBrain
    Volume135
    Issue number6
    DOIs
    Publication statusPublished - 2012
    Publication typeA1 Journal article-refereed

    Keywords

    • exome sequencing
    • mutation
    • myopathy
    • respiratory failure
    • titin

    Publication forum classification

    • Publication forum level 3

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