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Journal Abstract Search

207 related items for PubMed ID: 25576864

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  • 2. Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.
    Feinstein-Linial M, Buvoli M, Buvoli A, Sadeh M, Dabby R, Straussberg R, Shelef I, Dayan D, Leinwand LA, Birk OS.
    BMC Med Genet; 2016 Aug 12; 17(1):57. PubMed ID: 27519903
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  • 3. Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation.
    Overeem S, Schelhaas HJ, Blijham PJ, Grootscholten MI, ter Laak HJ, Timmermans J, van den Wijngaard A, Zwarts MJ.
    Neuromuscul Disord; 2007 Jun 12; 17(6):490-3. PubMed ID: 17383184
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  • 5. MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.
    Muelas N, Hackman P, Luque H, Garcés-Sánchez M, Azorín I, Suominen T, Sevilla T, Mayordomo F, Gómez L, Martí P, María Millán J, Udd B, Vílchez JJ.
    Neurology; 2010 Aug 24; 75(8):732-41. PubMed ID: 20733148
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  • 8. Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy.
    Komlósi K, Hadzsiev K, Garbes L, Martínez Carrera LA, Pál E, Sigurðsson JH, Magnusson O, Melegh B, Wirth B.
    Neuromuscul Disord; 2014 Feb 24; 24(2):156-61. PubMed ID: 24300783
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  • 10. Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7.
    Vermeer AM, van Engelen K, Postma AV, Baars MJ, Christiaans I, De Haij S, Klaassen S, Mulder BJ, Keavney B.
    Am J Med Genet C Semin Med Genet; 2013 Aug 24; 163C(3):178-84. PubMed ID: 23794396
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  • 11. MYH7-related disorders in two Bulgarian families: Novel variants in the same region associated with different clinical manifestation and disease penetrance.
    Atemin S, Todorov T, Maver A, Chamova T, Georgieva B, Tincheva S, Pacheva I, Ivanov I, Taneva A, Zlatareva D, Tournev I, Guergueltcheva V, Gospodinova M, Chochkova L, Peterlin B, Mitev V, Todorova A.
    Neuromuscul Disord; 2021 Jul 24; 31(7):633-641. PubMed ID: 34053846
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  • 13. Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype.
    Kolokotronis K, Kühnisch J, Klopocki E, Dartsch J, Rost S, Huculak C, Mearini G, Störk S, Carrier L, Klaassen S, Gerull B.
    Hum Mutat; 2019 Aug 24; 40(8):1101-1114. PubMed ID: 30924982
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  • 14. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.
    Ortolano S, Tarrío R, Blanco-Arias P, Teijeira S, Rodríguez-Trelles F, García-Murias M, Delague V, Lévy N, Fernández JM, Quintáns B, Millán BS, Carracedo A, Navarro C, Sobrido MJ.
    Neuromuscul Disord; 2011 Apr 24; 21(4):254-62. PubMed ID: 21288719
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  • 15. A novel MYH7 gene mutation in a fetus with left ventricular noncompaction.
    Nomura Y, Momoi N, Hirono K, Hata Y, Takasaki A, Nishida N, Ichida F.
    Can J Cardiol; 2015 Jan 24; 31(1):103.e1-3. PubMed ID: 25547560
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  • 16. Laing Myopathy: Report of 4 New Families With Novel MYH7 Mutations, Double Mutations, and Severe Phenotype.
    Alessi CE, Wu Q, Whitaker CH, Felice KJ.
    J Clin Neuromuscul Dis; 2020 Sep 24; 22(1):22-34. PubMed ID: 32833721
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  • 17. Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report.
    Astrea G, Petrucci A, Cassandrini D, Savarese M, Trovato R, Lispi L, Rubegni A, Giacanelli M, Massa R, Nigro V, Santorelli FM.
    BMC Med Genet; 2016 Mar 22; 17():25. PubMed ID: 27005958
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  • 19. A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family.
    Lefter S, Hardiman O, McLaughlin RL, Murphy SM, Farrell M, Ryan AM.
    Neuromuscul Disord; 2015 Feb 22; 25(2):155-60. PubMed ID: 25447691
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