Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 128

1.

Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.

Weterman MA, Barth PG, van Spaendonck-Zwarts KY, Aronica E, Poll-The BT, Brouwer OF, van Tintelen JP, Qahar Z, Bradley EJ, de Wissel M, Salviati L, Angelini C, van den Heuvel L, Thomasse YE, Backx AP, Nürnberg G, Nürnberg P, Baas F.

Brain. 2013 Jan;136(Pt 1):282-93. doi: 10.1093/brain/aws293.

PMID:
23365102
2.

Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy.

Flavigny J, Richard P, Isnard R, Carrier L, Charron P, Bonne G, Forissier JF, Desnos M, Dubourg O, Komajda M, Schwartz K, Hainque B.

J Mol Med (Berl). 1998 Mar;76(3-4):208-14.

PMID:
9535554
3.

Molecular and Functional Effects of a Splice Site Mutation in the MYL2 Gene Associated with Cardioskeletal Myopathy and Early Cardiac Death in Infants.

Zhou Z, Huang W, Liang J, Szczesna-Cordary D.

Front Physiol. 2016 Jun 17;7:240. doi: 10.3389/fphys.2016.00240. eCollection 2016.

4.

Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.

Kabaeva ZT, Perrot A, Wolter B, Dietz R, Cardim N, Correia JM, Schulte HD, Aldashev AA, Mirrakhimov MM, Osterziel KJ.

Eur J Hum Genet. 2002 Nov;10(11):741-8.

5.

Functions of myosin light chain-2 (MYL2) in cardiac muscle and disease.

Sheikh F, Lyon RC, Chen J.

Gene. 2015 Sep 10;569(1):14-20. doi: 10.1016/j.gene.2015.06.027. Epub 2015 Jun 12. Review. Erratum in: Gene. 2015 Oct 15;571(1):151.

6.

Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.

Poetter K, Jiang H, Hassanzadeh S, Master SR, Chang A, Dalakas MC, Rayment I, Sellers JR, Fananapazir L, Epstein ND.

Nat Genet. 1996 May;13(1):63-9.

PMID:
8673105
7.

Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.

Tajsharghi H, Hilton-Jones D, Raheem O, Saukkonen AM, Oldfors A, Udd B.

Brain. 2010 May;133(Pt 5):1451-9. doi: 10.1093/brain/awq083.

PMID:
20418530
8.

Novel familial dilated cardiomyopathy mutation in MYL2 affects the structure and function of myosin regulatory light chain.

Huang W, Liang J, Yuan CC, Kazmierczak K, Zhou Z, Morales A, McBride KL, Fitzgerald-Butt SM, Hershberger RE, Szczesna-Cordary D.

FEBS J. 2015 Jun;282(12):2379-93. doi: 10.1111/febs.13286. Epub 2015 Apr 16.

10.

Molecular basis of hypertrophic and dilated cardiomyopathy.

Marian AJ, Roberts R.

Tex Heart Inst J. 1994;21(1):6-15. Review.

11.

Genetic diagnosis of hypertrophic cardiomyopathy using mass spectrometry DNA arrays and high resolution melting.

Santos S, Lança V, Oliveira H, Branco P, Silveira L, Marques V, Brito D, Madeira H, Bicho M, Fernandes AR.

Rev Port Cardiol. 2011 Jan;30(1):7-18.

12.

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
13.

Hereditary myosin myopathies.

Oldfors A.

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

PMID:
17434305
14.

Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation.

Jay A, Chikarmane R, Poulik J, Misra VK.

Cardiology. 2013;124(4):248-51. doi: 10.1159/000347138. Epub 2013 Apr 9.

PMID:
23594557
15.

Different expressivity of a ventricular essential myosin light chain gene Ala57Gly mutation in familial hypertrophic cardiomyopathy.

Lee W, Hwang TH, Kimura A, Park SW, Satoh M, Nishi H, Harada H, Toyama J, Park JE.

Am Heart J. 2001 Feb;141(2):184-9.

PMID:
11174330
16.

Detection of mutations in symptomatic patients with hypertrophic cardiomyopathy in Taiwan.

Chiou KR, Chu CT, Charng MJ.

J Cardiol. 2015 Mar;65(3):250-6. doi: 10.1016/j.jjcc.2014.05.010. Epub 2014 Jul 30.

17.

Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation.

Szczesna D, Ghosh D, Li Q, Gomes AV, Guzman G, Arana C, Zhi G, Stull JT, Potter JD.

J Biol Chem. 2001 Mar 9;276(10):7086-92. Epub 2000 Dec 1.

18.

Smooth muscle myosin light chain kinase efficiently phosphorylates serine 15 of cardiac myosin regulatory light chain.

Josephson MP, Sikkink LA, Penheiter AR, Burghardt TP, Ajtai K.

Biochem Biophys Res Commun. 2011 Dec 16;416(3-4):367-71. doi: 10.1016/j.bbrc.2011.11.044. Epub 2011 Nov 19.

19.
20.

In vivo analysis of an essential myosin light chain mutation linked to familial hypertrophic cardiomyopathy.

Sanbe A, Nelson D, Gulick J, Setser E, Osinska H, Wang X, Hewett TE, Klevitsky R, Hayes E, Warshaw DM, Robbins J.

Circ Res. 2000 Aug 18;87(4):296-302.

Supplemental Content

Support Center