Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J

    Tutkimustuotos: ArtikkelijulkaisuArtikkeliTieteellinenvertaisarvioitu

    Kuvaus

    "Objective: To determine the phenotype variability associated with the specific C-terminal M-line titin mutation known to cause autosomal dominant distal myopathy, tibial muscular dystrophy (TMD; MIM 600334), and limb girdle muscular dystrophy 2J (LGMD2J). Methods: Three hundred eighty-six individuals were genotyped for the Finnish founder mutation in titin (FINmaj) causing TMD/LGMD2J. Results: Two hundred seven patients were heterozygous for the mutation. Among these patients, 189 (91%) had a more common phenotype compatible with the classic description of TMD. However, 18 (9%) had unusual phenotypes such as proximal leg or posterior lower leg muscle weakness and atrophy even at onset. Four patients were confirmed homozygotes representing the LGMD2J phenotype. These homozygotes were half of the eight LGMD patients previously described in the original large consanguineous kindred. Conclusions: Large variability of phenotypic expression caused by just one mutation, the Finnish FINmaj, suggests that no certain phenotype of myopathy/dystrophy can be excluded from being caused by mutated titin. Yet unknown homozygous or compound heterozygous titin mutations without phenotype in the heterozygote carriers may be responsible for undetermined recessive MD and LGMD."
    Alkuperäiskielienglanti
    LehtiNeurology
    Vuosikerta64
    Numero4
    Sivut636-642
    Sivumäärä7
    ISSN0028-3878
    DOI - pysyväislinkit
    TilaJulkaistu - 2005
    OKM-julkaisutyyppiA1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

    Lainaa tätä

    @article{ddd462de21904877a06c82e54b460571,
    title = "Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J",
    abstract = "{"}Objective: To determine the phenotype variability associated with the specific C-terminal M-line titin mutation known to cause autosomal dominant distal myopathy, tibial muscular dystrophy (TMD; MIM 600334), and limb girdle muscular dystrophy 2J (LGMD2J). Methods: Three hundred eighty-six individuals were genotyped for the Finnish founder mutation in titin (FINmaj) causing TMD/LGMD2J. Results: Two hundred seven patients were heterozygous for the mutation. Among these patients, 189 (91{\%}) had a more common phenotype compatible with the classic description of TMD. However, 18 (9{\%}) had unusual phenotypes such as proximal leg or posterior lower leg muscle weakness and atrophy even at onset. Four patients were confirmed homozygotes representing the LGMD2J phenotype. These homozygotes were half of the eight LGMD patients previously described in the original large consanguineous kindred. Conclusions: Large variability of phenotypic expression caused by just one mutation, the Finnish FINmaj, suggests that no certain phenotype of myopathy/dystrophy can be excluded from being caused by mutated titin. Yet unknown homozygous or compound heterozygous titin mutations without phenotype in the heterozygote carriers may be responsible for undetermined recessive MD and LGMD.{"}",
    author = "Bjarne Udd and Anna Vihola and Jaakko Sarparanta and Isabelle Richard and Peter Hackman",
    year = "2005",
    doi = "10.1212/01.WNL.0000151853.50144.82",
    language = "English",
    volume = "64",
    pages = "636--642",
    journal = "Neurology",
    issn = "0028-3878",
    publisher = "Lippincott williams & wilkins",
    number = "4",

    }

    Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. / Udd, Bjarne; Vihola, Anna; Sarparanta, Jaakko; Richard, Isabelle; Hackman, Peter.

    julkaisussa: Neurology, Vuosikerta 64, Nro 4, 2005, s. 636-642.

    Tutkimustuotos: ArtikkelijulkaisuArtikkeliTieteellinenvertaisarvioitu

    TY - JOUR

    T1 - Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J

    AU - Udd, Bjarne

    AU - Vihola, Anna

    AU - Sarparanta, Jaakko

    AU - Richard, Isabelle

    AU - Hackman, Peter

    PY - 2005

    Y1 - 2005

    N2 - "Objective: To determine the phenotype variability associated with the specific C-terminal M-line titin mutation known to cause autosomal dominant distal myopathy, tibial muscular dystrophy (TMD; MIM 600334), and limb girdle muscular dystrophy 2J (LGMD2J). Methods: Three hundred eighty-six individuals were genotyped for the Finnish founder mutation in titin (FINmaj) causing TMD/LGMD2J. Results: Two hundred seven patients were heterozygous for the mutation. Among these patients, 189 (91%) had a more common phenotype compatible with the classic description of TMD. However, 18 (9%) had unusual phenotypes such as proximal leg or posterior lower leg muscle weakness and atrophy even at onset. Four patients were confirmed homozygotes representing the LGMD2J phenotype. These homozygotes were half of the eight LGMD patients previously described in the original large consanguineous kindred. Conclusions: Large variability of phenotypic expression caused by just one mutation, the Finnish FINmaj, suggests that no certain phenotype of myopathy/dystrophy can be excluded from being caused by mutated titin. Yet unknown homozygous or compound heterozygous titin mutations without phenotype in the heterozygote carriers may be responsible for undetermined recessive MD and LGMD."

    AB - "Objective: To determine the phenotype variability associated with the specific C-terminal M-line titin mutation known to cause autosomal dominant distal myopathy, tibial muscular dystrophy (TMD; MIM 600334), and limb girdle muscular dystrophy 2J (LGMD2J). Methods: Three hundred eighty-six individuals were genotyped for the Finnish founder mutation in titin (FINmaj) causing TMD/LGMD2J. Results: Two hundred seven patients were heterozygous for the mutation. Among these patients, 189 (91%) had a more common phenotype compatible with the classic description of TMD. However, 18 (9%) had unusual phenotypes such as proximal leg or posterior lower leg muscle weakness and atrophy even at onset. Four patients were confirmed homozygotes representing the LGMD2J phenotype. These homozygotes were half of the eight LGMD patients previously described in the original large consanguineous kindred. Conclusions: Large variability of phenotypic expression caused by just one mutation, the Finnish FINmaj, suggests that no certain phenotype of myopathy/dystrophy can be excluded from being caused by mutated titin. Yet unknown homozygous or compound heterozygous titin mutations without phenotype in the heterozygote carriers may be responsible for undetermined recessive MD and LGMD."

    U2 - 10.1212/01.WNL.0000151853.50144.82

    DO - 10.1212/01.WNL.0000151853.50144.82

    M3 - Article

    VL - 64

    SP - 636

    EP - 642

    JO - Neurology

    JF - Neurology

    SN - 0028-3878

    IS - 4

    ER -