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Journal Abstract Search

279 related items for PubMed ID: 20376763

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  • 2. Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.
    Dye DE, Azzarelli B, Goebel HH, Laing NG.
    Neuromuscul Disord; 2006 Jun; 16(6):357-60. PubMed ID: 16684601
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  • 4. Scoliosis surgery in a patient with "de novo" myosin storage myopathy.
    Stalpers X, Verrips A, Braakhekke J, Lammens M, van den Wijngaard A, Mostert A.
    Neuromuscul Disord; 2011 Nov; 21(11):812-5. PubMed ID: 21723124
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  • 8. Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.
    Uro-Coste E, Arné-Bes MC, Pellissier JF, Richard P, Levade T, Heitz F, Figarella-Branger D, Delisle MB.
    Neuromuscul Disord; 2009 Feb; 19(2):163-6. PubMed ID: 19138847
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  • 9. Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy.
    Tajsharghi H, Oldfors A, Macleod DP, Swash M.
    Neurology; 2007 Mar 20; 68(12):962. PubMed ID: 17372140
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  • 10. 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 20; 17(6):490-3. PubMed ID: 17383184
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  • 11. MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.
    Pegoraro E, Gavassini BF, Borsato C, Melacini P, Vianello A, Stramare R, Cenacchi G, Angelini C.
    Neuromuscul Disord; 2007 Apr 20; 17(4):321-9. PubMed ID: 17336526
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  • 12. Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.
    Cullup T, Lamont PJ, Cirak S, Damian MS, Wallefeld W, Gooding R, Tan SV, Sheehan J, Muntoni F, Abbs S, Sewry CA, Dubowitz V, Laing NG, Jungbluth H.
    Neuromuscul Disord; 2012 Dec 20; 22(12):1096-104. PubMed ID: 22784669
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  • 13. New phenotype and pathology features in MYH7-related distal myopathy.
    Tasca G, Ricci E, Penttilä S, Monforte M, Giglio V, Ottaviani P, Camastra G, Silvestri G, Udd B.
    Neuromuscul Disord; 2012 Jul 20; 22(7):640-7. PubMed ID: 22521714
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  • 14. Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy.
    Homayoun H, Khavandgar S, Hoover JM, Mohsen AW, Vockley J, Lacomis D, Clemens PR.
    Neuromuscul Disord; 2011 Mar 20; 21(3):219-22. PubMed ID: 21211974
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  • 15. Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.
    Yüceyar N, Ayhan Ö, Karasoy H, Tolun A.
    Neuromuscul Disord; 2015 Apr 20; 25(4):340-4. PubMed ID: 25666907
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  • 16. A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report.
    Mamelona J, Filice L, Oussedik Y, Crapoulet N, Ouellette RJ, Marrero A.
    BMC Med Genet; 2019 May 08; 20(1):78. PubMed ID: 31068177
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  • 19. Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.
    Bánfai Z, Hadzsiev K, Pál E, Komlósi K, Melegh M, Balikó L, Melegh B.
    BMC Med Genet; 2017 Sep 19; 18(1):105. PubMed ID: 28927399
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