PubMed (OMIM) for id: 4633

Year	Number of Results
1989	1
1992	1
1993	1
1996	1
1998	2
2000	1
2001	2
2002	1
2005	2
2013	1
2017	1
2020	1
2024	0

1

Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.

Manivannan SN, Darouich S, Masmoudi A, Gordon D, Zender G, Han Z, Fitzgerald-Butt S, White P, McBride KL, Kharrat M, Garg V. Manivannan SN, et al. PLoS Genet. 2020 May 26;16(5):e1008639. doi: 10.1371/journal.pgen.1008639. eCollection 2020 May. PLoS Genet. 2020. PMID: 32453731 Free PMC article.

2

A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy: A Classic Single-Gene Disorder.

Li L, Bainbridge MN, Tan Y, Willerson JT, Marian AJ. Li L, et al. Circ Res. 2017 Mar 31;120(7):1084-1090. doi: 10.1161/CIRCRESAHA.116.310559. Epub 2017 Feb 21. Circ Res. 2017. PMID: 28223422 Free PMC article.

3

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. Weterman MA, et al. Brain. 2013 Jan;136(Pt 1):282-93. doi: 10.1093/brain/aws293. Brain. 2013. PMID: 23365102

4

The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice.

Szczesna-Cordary D, Guzman G, Zhao J, Hernandez O, Wei J, Diaz-Perez Z. Szczesna-Cordary D, et al. J Cell Sci. 2005 Aug 15;118(Pt 16):3675-83. doi: 10.1242/jcs.02492. Epub 2005 Aug 2. J Cell Sci. 2005. PMID: 16076902

5

Fine-tuning in Ca2+ homeostasis underlies progression of cardiomyopathy in myocytes derived from genetically modified embryonic stem cells.

Grey C, Méry A, Pucéat M. Grey C, et al. Hum Mol Genet. 2005 May 15;14(10):1367-77. doi: 10.1093/hmg/ddi146. Epub 2005 Apr 13. Hum Mol Genet. 2005. PMID: 15829506

6

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. Kabaeva ZT, et al. Eur J Hum Genet. 2002 Nov;10(11):741-8. doi: 10.1038/sj.ejhg.5200872. Eur J Hum Genet. 2002. PMID: 12404107

7

The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation.

Davis JS, Hassanzadeh S, Winitsky S, Lin H, Satorius C, Vemuri R, Aletras AH, Wen H, Epstein ND. Davis JS, et al. Cell. 2001 Nov 30;107(5):631-41. doi: 10.1016/s0092-8674(01)00586-4. Cell. 2001. PMID: 11733062 Free article.

8

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. Szczesna D, et al. J Biol Chem. 2001 Mar 9;276(10):7086-92. doi: 10.1074/jbc.M009823200. Epub 2000 Dec 1. J Biol Chem. 2001. PMID: 11102452 Free article.

9

Infantile fibre type disproportion, myofibrillar lysis and cardiomyopathy: a disorder in three unrelated Dutch families.

Barth PG, Wanders RJ, Ruitenbeek W, Roe C, Scholte HR, van der Harten H, van Moorsel J, Duran M, Dingemans KP. Barth PG, et al. Neuromuscul Disord. 1998 Jun;8(5):296-304. doi: 10.1016/s0960-8966(98)00028-5. Neuromuscul Disord. 1998. PMID: 9673982

10

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. Flavigny J, et al. J Mol Med (Berl). 1998 Mar;76(3-4):208-14. doi: 10.1007/s001090050210. J Mol Med (Berl). 1998. PMID: 9535554

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