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Items: 19

1.

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. doi: 10.1186/s12881-016-0315-1.

2.

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

Fiorillo C, Astrea G, Savarese M, Cassandrini D, Brisca G, Trucco F, Pedemonte M, Trovato R, Ruggiero L, Vercelli L, D'Amico A, Tasca G, Pane M, Fanin M, Bello L, Broda P, Musumeci O, Rodolico C, Messina S, Vita GL, Sframeli M, Gibertini S, Morandi L, Mora M, Maggi L, Petrucci A, Massa R, Grandis M, Toscano A, Pegoraro E, Mercuri E, Bertini E, Mongini T, Santoro L, Nigro V, Minetti C, Santorelli FM, Bruno C; Italian Network on Congenital Myopathies.

Orphanet J Rare Dis. 2016 Jul 7;11(1):91. doi: 10.1186/s13023-016-0476-1.

3.

A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy.

Oda T, Xiong H, Kobayashi K, Wang S, Satake W, Jiao H, Yang Y, Cha PC, Hayashi YK, Nishino I, Suzuki Y, Sugano S, Wu X, Toda T.

Hum Genome Var. 2015 Jul 16;2:15022. doi: 10.1038/hgv.2015.22. eCollection 2015.

4.

Laing distal myopathy pathologically resembling inclusion body myositis.

Roda RH, Schindler AB, Blackstone C, Mammen AL, Corse AM, Lloyd TE.

Ann Clin Transl Neurol. 2014 Dec;1(12):1053-8. doi: 10.1002/acn3.140. Epub 2014 Nov 6.

5.

Distal myopathies.

Dimachkie MM, Barohn RJ.

Neurol Clin. 2014 Aug;32(3):817-42, x. doi: 10.1016/j.ncl.2014.04.004. Epub 2014 May 15. Review.

6.

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG.

Hum Mutat. 2014 Jul;35(7):868-79. doi: 10.1002/humu.22553. Epub 2014 May 21.

7.

Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.

Tajsharghi H, Hammans S, Lindberg C, Lossos A, Clarke NF, Mazanti I, Waddell LB, Fellig Y, Foulds N, Katifi H, Webster R, Raheem O, Udd B, Argov Z, Oldfors A.

Eur J Hum Genet. 2014 Jun;22(6):801-8. doi: 10.1038/ejhg.2013.250. Epub 2013 Nov 6.

8.

A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs.

Murgiano L, Tammen I, Harlizius B, Drögemüller C.

BMC Genet. 2012 Nov 15;13:99. doi: 10.1186/1471-2156-13-99.

9.

Myosinopathies: pathology and mechanisms.

Tajsharghi H, Oldfors A.

Acta Neuropathol. 2013 Jan;125(1):3-18. doi: 10.1007/s00401-012-1024-2. Epub 2012 Aug 5. Review.

10.

Effects of pathogenic proline mutations on myosin assembly.

Buvoli M, Buvoli A, Leinwand LA.

J Mol Biol. 2012 Feb 3;415(5):807-18. doi: 10.1016/j.jmb.2011.11.042. Epub 2011 Dec 6.

11.

Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy.

Cirak S, von Deimling F, Sachdev S, Errington WJ, Herrmann R, Bönnemann C, Brockmann K, Hinderlich S, Lindner TH, Steinbrecher A, Hoffmann K, Privé GG, Hannink M, Nürnberg P, Voit T.

Brain. 2010 Jul;133(Pt 7):2123-35. doi: 10.1093/brain/awq108. Epub 2010 Jun 16.

12.

Thick and thin filament gene mutations in striated muscle diseases.

Tajsharghi H.

Int J Mol Sci. 2008 Jun;9(7):1259-75. doi: 10.3390/ijms9071259. Epub 2008 Jul 16.

13.

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy.

Lamont PJ, Udd B, Mastaglia FL, de Visser M, Hedera P, Voit T, Bridges LR, Fabian V, Rozemuller A, Laing NG.

J Neurol Neurosurg Psychiatry. 2006 Feb;77(2):208-15. Epub 2005 Aug 15.

14.

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.

15.

Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31.

Feit H, Silbergleit A, Schneider LB, Gutierrez JA, Fitoussi RP, Réyès C, Rouleau GA, Brais B, Jackson CE, Beckmann JS, Seboun E.

Am J Hum Genet. 1998 Dec;63(6):1732-42.

16.

The muscular dystrophies.

Emery AE.

BMJ. 1998 Oct 10;317(7164):991-5. Review. No abstract available.

17.

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

Haravuori H, Mäkelä-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, Peltonen L.

Am J Hum Genet. 1998 Mar;62(3):620-6.

18.

Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.

Weiler T, Greenberg CR, Nylen E, Halliday W, Morgan K, Eggertson D, Wrogemann K.

Am J Hum Genet. 1996 Oct;59(4):872-8.

19.

Investigation of muscle disease.

Mastaglia FL, Laing NG.

J Neurol Neurosurg Psychiatry. 1996 Mar;60(3):256-74. Review. No abstract available.

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