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    Results: 17

    1.

    Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.

    Davidson AE, Siddiqui FM, Lopez MA, Lunt P, Carlson HA, Moore BE, Love S, Born DE, Roper H, Majumdar A, Jayadev S, Underhill HR, Smith CO, von der Hagen M, Hubner A, Jardine P, Merrison A, Curtis E, Cullup T, Jungbluth H, Cox MO, Winder TL, Abdel Salam H, Li JZ, Moore SA, Dowling JJ.

    Brain. 2013 Feb;136(Pt 2):508-21. doi: 10.1093/brain/aws344.

    PMID:
    23413262
    [PubMed - indexed for MEDLINE]
    2.

    Myopathies associated with β-tropomyosin mutations.

    Tajsharghi H, Ohlsson M, Palm L, Oldfors A.

    Neuromuscul Disord. 2012 Nov;22(11):923-33. doi: 10.1016/j.nmd.2012.05.018. Epub 2012 Jun 29. Review.

    PMID:
    22749895
    [PubMed - indexed for MEDLINE]
    3.

    Protein aggregation in congenital myopathies.

    Goebel HH, Blaschek A.

    Semin Pediatr Neurol. 2011 Dec;18(4):272-6. doi: 10.1016/j.spen.2011.10.009. Review.

    PMID:
    22172423
    [PubMed - indexed for MEDLINE]
    4.

    Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy.

    Marttila M, Lemola E, Wallefeld W, Memo M, Donner K, Laing NG, Marston S, Grönholm M, Wallgren-Pettersson C.

    Biochem J. 2012 Feb 15;442(1):231-9. doi: 10.1042/BJ20111030.

    PMID:
    22084935
    [PubMed - indexed for MEDLINE]
    Free Article
    5.

    Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.

    Waddell LB, Kreissl M, Kornberg A, Kennedy P, McLean C, Labarre-Vila A, Monnier N, North KN, Clarke NF.

    Neuromuscul Disord. 2010 Jul;20(7):464-6. doi: 10.1016/j.nmd.2010.05.012. Epub 2010 Jun 15.

    PMID:
    20554445
    [PubMed - indexed for MEDLINE]
    6.

    Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1.

    Hung RM, Yoon G, Hawkins CE, Halliday W, Biggar D, Vajsar J.

    Neuromuscul Disord. 2010 Apr;20(4):238-40. doi: 10.1016/j.nmd.2010.01.011. Epub 2010 Mar 19. Erratum in: Neuromuscul Disord.2010 Aug;20(8):567.

    PMID:
    20303757
    [PubMed - indexed for MEDLINE]
    7.

    A TPM3 mutation causing cap myopathy.

    De Paula AM, Franques J, Fernandez C, Monnier N, Lunardi J, Pellissier JF, Figarella-Branger D, Pouget J.

    Neuromuscul Disord. 2009 Oct;19(10):685-8. doi: 10.1016/j.nmd.2009.06.365. Epub 2009 Jun 23.

    PMID:
    19553118
    [PubMed - indexed for MEDLINE]
    8.

    Cap disease due to mutation of the beta-tropomyosin gene (TPM2).

    Clarke NF, Domazetovska A, Waddell L, Kornberg A, McLean C, North KN.

    Neuromuscul Disord. 2009 May;19(5):348-51. doi: 10.1016/j.nmd.2009.03.003. Epub 2009 Apr 3.

    PMID:
    19345583
    [PubMed - indexed for MEDLINE]
    9.

    Tropomyosins in skeletal muscle diseases.

    Kee AJ, Hardeman EC.

    Adv Exp Med Biol. 2008;644:143-57. Review.

    PMID:
    19209820
    [PubMed - indexed for MEDLINE]
    10.

    New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations.

    Ohlsson M, Quijano-Roy S, Darin N, Brochier G, Lacène E, Avila-Smirnow D, Fardeau M, Oldfors A, Tajsharghi H.

    Neurology. 2008 Dec 2;71(23):1896-901. doi: 10.1212/01.wnl.0000336654.44814.b8.

    PMID:
    19047562
    [PubMed - indexed for MEDLINE]
    11.

    Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction.

    Ochala J.

    J Mol Med (Berl). 2008 Nov;86(11):1197-204. doi: 10.1007/s00109-008-0380-9. Epub 2008 Jun 24. Review.

    PMID:
    18574571
    [PubMed - indexed for MEDLINE]
    12.

    Congenital myopathies.

    Laing NG.

    Curr Opin Neurol. 2007 Oct;20(5):583-9. Review.

    PMID:
    17885449
    [PubMed - indexed for MEDLINE]
    13.

    Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).

    Tajsharghi H, Ohlsson M, Lindberg C, Oldfors A.

    Arch Neurol. 2007 Sep;64(9):1334-8.

    PMID:
    17846275
    [PubMed - indexed for MEDLINE]
    14.

    Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2.

    Lehtokari VL, Ceuterick-de Groote C, de Jonghe P, Marttila M, Laing NG, Pelin K, Wallgren-Pettersson C.

    Neuromuscul Disord. 2007 Jun;17(6):433-42. Epub 2007 Apr 16.

    PMID:
    17434307
    [PubMed - indexed for MEDLINE]
    15.

    "Cap disease"--a failure in the correct muscle fibre formation.

    Fidziańska A.

    J Neurol Sci. 2002 Sep 15;201(1-2):27-31.

    PMID:
    12163190
    [PubMed - indexed for MEDLINE]
    16.

    Origin of the ring muscle fibers in neuromuscular diseases.

    Sawicka E.

    Neuropatol Pol. 1991;29(1-2):29-40.

    PMID:
    1839930
    [PubMed - indexed for MEDLINE]
    17.

    "Cap disease": new congenital myopathy.

    Fidzianska A, Badurska B, Ryniewicz B, Dembek I.

    Neurology. 1981 Sep;31(9):1113-20. No abstract available.

    PMID:
    7196531
    [PubMed - indexed for MEDLINE]

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