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Items: 1 to 20 of 283

1.

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. Epub 2006 May 8.

PMID:
16684601
2.

Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases.

Laing NG, Ceuterick-de Groote C, Dye DE, Liyanage K, Duff RM, Dubois B, Robberecht W, Sciot R, Martin JJ, Goebel HH.

Neurology. 2005 Feb 8;64(3):527-9.

PMID:
15699387
3.

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. 2003 Oct;54(4):494-500.

PMID:
14520662
4.

[Myosin storage myopathy: a rare subtype of protein aggregate myopathies].

Kiphuth IC, Neuen-Jacob E, Struffert T, Wehner M, Wallefeld W, Laing N, Schröder R.

Fortschr Neurol Psychiatr. 2010 Apr;78(4):219-22. doi: 10.1055/s-0029-1245145. Epub 2010 Apr 7. German.

PMID:
20376763
5.

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;21(4):254-62. doi: 10.1016/j.nmd.2010.12.011. Epub 2011 Feb 1.

PMID:
21288719
6.

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. doi: 10.1016/j.nmd.2011.05.005. Epub 2011 Jun 30.

PMID:
21723124
7.

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. doi: 10.1016/j.nmd.2008.11.012. Epub 2009 Jan 12.

PMID:
19138847
8.

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;17(6):490-3. Epub 2007 Mar 23.

PMID:
17383184
9.

Hereditary myosin myopathies.

Oldfors A.

Neuromuscul Disord. 2007 May;17(5):355-67. Epub 2007 Apr 16. Review.

PMID:
17434305
10.

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;17(4):321-9. Epub 2007 Mar 2.

PMID:
17336526
11.

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;25(4):340-4. doi: 10.1016/j.nmd.2015.01.007. Epub 2015 Jan 26.

PMID:
25666907
12.

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. No abstract available.

PMID:
17372140
13.

New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.

Darin N, Tajsharghi H, Ostman-Smith I, Gilljam T, Oldfors A.

Neurology. 2007 Jun 5;68(23):2041-2. No abstract available.

PMID:
17548557
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;21(3):219-22. doi: 10.1016/j.nmd.2010.12.005. Epub 2011 Jan 5.

PMID:
21211974
15.

Myosin storage (hyaline body) myopathy: a case report.

Shingde MV, Spring PJ, Maxwell A, Wills EJ, Harper CG, Dye DE, Laing NG, North KN.

Neuromuscul Disord. 2006 Dec;16(12):882-6. Epub 2006 Nov 21.

PMID:
17118657
16.

Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.

Tajsharghi H, Kimber E, Kroksmark AK, Jerre R, Tulinius M, Oldfors A.

Arch Neurol. 2008 Aug;65(8):1083-90. doi: 10.1001/archneur.65.8.1083. Erratum in: Arch Neurol. 2008 Dec;65(12):1654.

PMID:
18695058
17.

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG.

Am J Hum Genet. 2004 Oct;75(4):703-8. Epub 2004 Aug 20.

18.

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG.

Nat Genet. 1999 Oct;23(2):208-12.

PMID:
10508519
19.

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.

Clarke NF, Amburgey K, Teener J, Camelo-Piragua S, Kesari A, Punetha J, Waddell LB, Davis M, Laing NG, Monnier N, North KN, Hoffman EP, Dowling JJ.

Neuromuscul Disord. 2013 May;23(5):432-6. doi: 10.1016/j.nmd.2013.02.009. Epub 2013 Mar 9.

20.

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. doi: 10.1186/s12881-017-0463-y.

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