Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)

Peter Hackman, Sylvie Marchand, Jaakko Sarparanta, Anna Vihola, Isabelle Penisson-Besnier, Bruno Eymard, El-Hadi Hammouda, Isabelle Richard, Isabel Illa, Bjarne Udd, Anna Eymard, Bruno Vihola

    Research output: Contribution to journalArticleScientificpeer-review

    Abstract

    "Mutations in C-terminal titin cause autosomal dominant tibial muscular dystrophy (TMD) as reported previously. Samples from 25 new families and 25 sporadic new distal myopathy cases were screened for titin mutations. Three novel Mutations were discovered in two families from Spain and two families from France. Two mutations, g.292998delT and g.293376delA lead to frameshift and premature stop codons in the second last and the last titin gene (TTN) exons, Mex5 and Mex6, respectively. The third was a nonsense mutation g.293379C > T (p.Q33396X) in Mex6. Patients with the upstream Mex5 mutation showed a more severe phenotype with earlier onset implying a genotype-phenotype correlation. (C) 2008 Elsevier B.V. All rights reserved."
    Original languageEnglish
    JournalNeuromuscular Disorders
    Volume18
    Issue number12
    Pages (from-to)922-928
    Number of pages7
    ISSN0960-8966
    DOIs
    Publication statusPublished - 2008
    MoE publication typeA1 Journal article-refereed

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