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

    Cite this

    Hackman, Peter ; Marchand, Sylvie ; Sarparanta, Jaakko ; Vihola, Anna ; Penisson-Besnier, Isabelle ; Eymard, Bruno ; Hammouda, El-Hadi ; Richard, Isabelle ; Illa, Isabel ; Udd, Bjarne ; Vihola, Anna Eymard, Bruno. / Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). In: Neuromuscular Disorders. 2008 ; Vol. 18, No. 12. pp. 922-928.
    @article{6713fb6e7b4542caabc2456a62212734,
    title = "Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)",
    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.{"}",
    author = "Peter Hackman and Sylvie Marchand and Jaakko Sarparanta and Anna Vihola and Isabelle Penisson-Besnier and Bruno Eymard and El-Hadi Hammouda and Isabelle Richard and Isabel Illa and Bjarne Udd and Vihola, {Anna Eymard, Bruno}",
    year = "2008",
    doi = "10.1016/j.nmd.2008.07.010",
    language = "English",
    volume = "18",
    pages = "922--928",
    journal = "Neuromuscular Disorders",
    issn = "0960-8966",
    publisher = "Elsevier Scientific Publ. Co",
    number = "12",

    }

    Hackman, P, Marchand, S, Sarparanta, J, Vihola, A, Penisson-Besnier, I, Eymard, B, Hammouda, E-H, Richard, I, Illa, I, Udd, B & Vihola, AEB 2008, 'Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)', Neuromuscular Disorders, vol. 18, no. 12, pp. 922-928. https://doi.org/10.1016/j.nmd.2008.07.010

    Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). / Hackman, Peter; Marchand, Sylvie; Sarparanta, Jaakko; Vihola, Anna; Penisson-Besnier, Isabelle; Eymard, Bruno; Hammouda, El-Hadi; Richard, Isabelle; Illa, Isabel; Udd, Bjarne; Vihola, Anna Eymard, Bruno.

    In: Neuromuscular Disorders, Vol. 18, No. 12, 2008, p. 922-928.

    Research output: Contribution to journalArticleScientificpeer-review

    TY - JOUR

    T1 - Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)

    AU - Hackman, Peter

    AU - Marchand, Sylvie

    AU - Sarparanta, Jaakko

    AU - Vihola, Anna

    AU - Penisson-Besnier, Isabelle

    AU - Eymard, Bruno

    AU - Hammouda, El-Hadi

    AU - Richard, Isabelle

    AU - Illa, Isabel

    AU - Udd, Bjarne

    AU - Vihola, Anna Eymard, Bruno

    PY - 2008

    Y1 - 2008

    N2 - "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."

    AB - "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."

    U2 - 10.1016/j.nmd.2008.07.010

    DO - 10.1016/j.nmd.2008.07.010

    M3 - Article

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    JO - Neuromuscular Disorders

    JF - Neuromuscular Disorders

    SN - 0960-8966

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    ER -