PubMed (GeneRIF) for id: 4604

Year	Number of Results
2003	1
2005	1
2007	1
2009	1
2010	3
2011	2
2012	1
2013	1
2015	1
2016	2
2019	2
2022	1
2023	2
2024	1

1

Congenital tremor and myopathy secondary to novel MYBPC1 variant.

Leduc-Pessah H, Smith IC, Kernohan KD, Sampaio M, Melkus G, Strasser L, Chisholm C, Huang L, Hanes I, Tran MA, Venkateswaran S, Muir K, Charlesworth L, Warman-Chardon J. Leduc-Pessah H, et al. J Neurol Sci. 2024 Feb 15;457:122864. doi: 10.1016/j.jns.2023.122864. Epub 2024 Jan 4. J Neurol Sci. 2024. PMID: 38185014

2

A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.

Uneoka S, Kobayashi T, Numata-Uematsu Y, Oikawa Y, Katata Y, Okubo Y, Abe Y, Kikuchi A, Takayama J, Tamiya G, Kure S, Saito K, Uematsu M. Uneoka S, et al. Pediatr Neurol. 2023 Sep;146:16-20. doi: 10.1016/j.pediatrneurol.2023.06.002. Epub 2023 Jun 12. Pediatr Neurol. 2023. PMID: 37392669

3

MYBPC1 is a key regulator for laryngeal carcinoma formation.

Liu J, Song J, Li C. Liu J, et al. Anticancer Drugs. 2023 Jan 1;34(1):1-8. doi: 10.1097/CAD.0000000000001313. Epub 2022 Oct 22. Anticancer Drugs. 2023. PMID: 36539363 Free PMC article.

4

Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.

Shashi V, Geist J, Lee Y, Yoo Y, Shin U, Schoch K, Sullivan J, Stong N, Smith E, Jasien J, Kranz P; Undiagnosed Diseases Network; Lee Y, Shin YB, Wright NT, Choi M, Kontrogianni-Konstantopoulos A. Shashi V, et al. Hum Mutat. 2019 Aug;40(8):1115-1126. doi: 10.1002/humu.23760. Epub 2019 May 5. Hum Mutat. 2019. PMID: 31264822 Free PMC article.

5

Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.

Stavusis J, Lace B, Schäfer J, Geist J, Inashkina I, Kidere D, Pajusalu S, Wright NT, Saak A, Weinhold M, Haubenberger D, Jackson S, Kontrogianni-Konstantopoulos A, Bönnemann CG. Stavusis J, et al. Ann Neurol. 2019 Jul;86(1):129-142. doi: 10.1002/ana.25494. Epub 2019 May 17. Ann Neurol. 2019. PMID: 31025394 Free PMC article.

6

C0 and C1 N-terminal Ig domains of myosin binding protein C exert different effects on thin filament activation.

Harris SP, Belknap B, Van Sciver RE, White HD, Galkin VE. Harris SP, et al. Proc Natl Acad Sci U S A. 2016 Feb 9;113(6):1558-63. doi: 10.1073/pnas.1518891113. Epub 2016 Feb 1. Proc Natl Acad Sci U S A. 2016. PMID: 26831109 Free PMC article.

7

Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.

Ekhilevitch N, Kurolap A, Oz-Levi D, Mory A, Hershkovitz T, Ast G, Mandel H, Baris HN. Ekhilevitch N, et al. Clin Genet. 2016 Jul;90(1):84-9. doi: 10.1111/cge.12707. Epub 2016 Jan 20. Clin Genet. 2016. PMID: 26661508

8

Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.

Li X, Zhong B, Han W, Zhao N, Liu W, Sui Y, Wang Y, Lu Y, Wang H, Li J, Jiang M. Li X, et al. PLoS One. 2015 Feb 13;10(2):e0117158. doi: 10.1371/journal.pone.0117158. eCollection 2015. PLoS One. 2015. PMID: 25679999 Free PMC article.

9

Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.

Marsiglia JD, Credidio FL, de Oliveira TG, Reis RF, Antunes Mde O, de Araujo AQ, Pedrosa RP, Barbosa-Ferreira JM, Mady C, Krieger JE, Arteaga-Fernandez E, Pereira Ada C. Marsiglia JD, et al. Am Heart J. 2013 Oct;166(4):775-82. doi: 10.1016/j.ahj.2013.07.029. Epub 2013 Sep 18. Am Heart J. 2013. PMID: 24093860 Free article.

10

Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.

Markus B, Narkis G, Landau D, Birk RZ, Cohen I, Birk OS. Markus B, et al. Hum Mutat. 2012 Oct;33(10):1435-8. doi: 10.1002/humu.22122. Epub 2012 Jun 7. Hum Mutat. 2012. PMID: 22610851

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