1 | MMS, MYH7
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| Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells.
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| Dahl-Halvarsson M, Pokrzywa M, Rauthan M, Pilon M, Tajsharghi H.
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| PLoS One 12(1):e0170613. doi: 10.1371/journal.pone.0170613. eCollection 2017.
2017
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2 | MMS, MYH7
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| A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.
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| 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.
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| Neuromuscul Disord 21(4):254-62. Epub 2011 Feb 1.
2011
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3 | MMS, MYH7
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| Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms.
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| Armel TZ, Leinwand LA.
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| Proc Natl Acad Sci U S A 106(15):6291-6. Epub 2009 Mar 31.
2009
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4 | FSS, IBM3, MMS, MPD1, MYH2, MYH3, MYH7, MYH8, SHHS, TPCS
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| Thick filament diseases.
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| Oldfors A, Lamont PJ.
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| Adv Exp Med Biol 642:78-91. Review.PMID: 19181095 2008
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5 | MMS, MYH7
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| Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy.
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| Tajsharghi H, Oldfors A, Macleod DP, Swash M.
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| Neurology 68(12):962. No abstract available.
2007
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6 | MMS, MYH7
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| MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.
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| Pegoraro E, Gavassini BF, Borsato C, Melacini P, Vianello A, Stramare R, Cenacchi G, Angelini C.
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| Neuromuscul Disord 17(4):321-9. Epub 2007 Mar 2.
2007
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7 | CMH1, MMS, MPD1, MYH7
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| Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation.
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| Overeem S, Schelhaas HJ, Blijham PJ, Grootscholten MI, ter Laak HJ, Timmermans J, van den Wijngaard A, Zwarts MJ.
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| Neuromuscul Disord 17(6):490-3. Epub 2007 Mar 23.
2007
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8 | MYH7, MMS
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| Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.
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| Dye DE, Azzarelli B, Goebel HH, Laing NG.
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| Neuromuscul Disord 16(6):357-60. Epub 2006 May 8. 2006
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9 | MYH7, MMS
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| Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.
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| Bohlega S, Abu-Amero SN, Wakil SM, Carroll P, Al-Amr R, Lach B, Al-Sayed Y, Cupler EJ, Meyer BF.
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| Neurology 62(9):1518-21. 2004
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10 | MYH7, MMS
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| Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.
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| Tajsharghi H, Thornell LE, Lindberg C, Lindvall B, Henriksson KG, Oldfors A.
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| Ann Neurol 54(4):494-500. 2003
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