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