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307 related items for PubMed ID: 32993534

  • 1. Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy - a case report.
    Giucă A, Mitu C, Popescu BO, Bastian AE, Capşa R, Mursă A, Rădoi V, Popescu BA, Jurcuţ R.
    BMC Med Genet; 2020 Sep 29; 21(1):188. PubMed ID: 32993534
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  • 2. X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene.
    D'Arcy C, Kanellakis V, Forbes R, Wilding B, McGrath M, Howell K, Ryan M, McLean C.
    J Child Neurol; 2015 Aug 29; 30(9):1211-7. PubMed ID: 25246303
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  • 3. Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.
    Malfatti E, Olivé M, Taratuto AL, Richard P, Brochier G, Bitoun M, Gueneau L, Laforêt P, Stojkovic T, Maisonobe T, Monges S, Lubieniecki F, Vasquez G, Streichenberger N, Lacène E, Saccoliti M, Prudhon B, Alexianu M, Figarella-Branger D, Schessl J, Bonnemann C, Eymard B, Fardeau M, Bonne G, Romero NB.
    J Neuropathol Exp Neurol; 2013 Sep 29; 72(9):833-45. PubMed ID: 23965743
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  • 5. Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy.
    Friedrich FW, Wilding BR, Reischmann S, Crocini C, Lang P, Charron P, Müller OJ, McGrath MJ, Vollert I, Hansen A, Linke WA, Hengstenberg C, Bonne G, Morner S, Wichter T, Madeira H, Arbustini E, Eschenhagen T, Mitchell CA, Isnard R, Carrier L.
    Hum Mol Genet; 2012 Jul 15; 21(14):3237-54. PubMed ID: 22523091
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  • 6. Reducing body myopathy and other FHL1-related muscular disorders.
    Schessl J, Feldkirchner S, Kubny C, Schoser B.
    Semin Pediatr Neurol; 2011 Dec 15; 18(4):257-63. PubMed ID: 22172421
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  • 9. FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation.
    Wilding BR, McGrath MJ, Bonne G, Mitchell CA.
    J Cell Sci; 2014 May 15; 127(Pt 10):2269-81. PubMed ID: 24634512
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  • 10. Myofibrillar myopathy caused by a novel FHL1 mutation presenting a mild myopathy with ankle contracture.
    Park YE, Kim DS, Shin JH.
    Clin Neurol Neurosurg; 2019 May 15; 180():48-51. PubMed ID: 30928807
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  • 11. Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.
    Sarkozy A, Windpassinger C, Hudson J, Dougan CF, Lecky B, Hilton-Jones D, Eagle M, Charlton R, Barresi R, Lochmüller H, Bushby K, Straub V.
    Eur J Hum Genet; 2011 Oct 15; 19(10):1038-44. PubMed ID: 21629301
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  • 12. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
    Gueneau L, Bertrand AT, Jais JP, Salih MA, Stojkovic T, Wehnert M, Hoeltzenbein M, Spuler S, Saitoh S, Verschueren A, Tranchant C, Beuvin M, Lacene E, Romero NB, Heath S, Zelenika D, Voit T, Eymard B, Ben Yaou R, Bonne G.
    Am J Hum Genet; 2009 Sep 15; 85(3):338-53. PubMed ID: 19716112
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  • 13. Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1.
    San Román I, Navarro M, Martínez F, Albert L, Polo L, Guardiola J, García-Molina E, Muñoz-Esparza C, López-Ayala JM, Sabater-Molina M, Gimeno JR.
    Clin Genet; 2016 Aug 15; 90(2):171-6. PubMed ID: 26857240
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  • 16. An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.
    Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Löscher WN, Wagner K, Lochmüller H, Vincent JB, Quasthoff S.
    Am J Hum Genet; 2008 Jan 15; 82(1):88-99. PubMed ID: 18179888
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  • 19. Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy.
    Borch JDS, Krag T, Holm-Yildiz SD, Cetin H, Solheim TA, Fornander F, Straub V, Duno M, Vissing J.
    Hum Mutat; 2022 Sep 15; 43(9):1234-1238. PubMed ID: 35607917
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  • 20. Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.
    Tiffin HR, Jenkins ZA, Gray MJ, Cameron-Christie SR, Eaton J, Aftimos S, Markie D, Robertson SP.
    Neurogenetics; 2013 May 15; 14(2):113-21. PubMed ID: 23456229
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