Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy
- PMID: 17372140
- DOI: 10.1212/01.wnl.0000257131.13438.2c
Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy
Similar articles
-
New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.Neurology. 2007 Jun 5;68(23):2041-2. doi: 10.1212/01.wnl.0000264430.55233.72. Neurology. 2007. PMID: 17548557 No abstract available.
-
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation.Neuromuscul Disord. 2009 Feb;19(2):163-6. doi: 10.1016/j.nmd.2008.11.012. Epub 2009 Jan 12. Neuromuscul Disord. 2009. PMID: 19138847
-
Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.Neuromuscul Disord. 2006 Jun;16(6):357-60. doi: 10.1016/j.nmd.2006.03.011. Epub 2006 May 8. Neuromuscul Disord. 2006. PMID: 16684601
-
MYH7 in cardiomyopathy and skeletal muscle myopathy.Mol Cell Biochem. 2024 Feb;479(2):393-417. doi: 10.1007/s11010-023-04735-x. Epub 2023 Apr 20. Mol Cell Biochem. 2024. PMID: 37079208 Review.
-
Sarcomere mutations in cardiogenesis and ventricular noncompaction.Trends Cardiovasc Med. 2009 Jan;19(1):17-21. doi: 10.1016/j.tcm.2009.03.003. Trends Cardiovasc Med. 2009. PMID: 19467449 Review.
Cited by
-
Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2.BMC Neurol. 2022 Nov 15;22(1):428. doi: 10.1186/s12883-022-02935-4. BMC Neurol. 2022. PMID: 36380287 Free PMC article.
-
Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene.Acta Myol. 2020 Mar 1;39(1):24-28. doi: 10.36185/2532-1900-004. eCollection 2020 Mar. Acta Myol. 2020. PMID: 32607476 Free PMC article.
-
Knockdown of embryonic myosin heavy chain reveals an essential role in the morphology and function of the developing heart.Development. 2011 Sep;138(18):3955-66. doi: 10.1242/dev.059063. Development. 2011. PMID: 21862559 Free PMC article.
-
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.Am J Hum Genet. 2020 Dec 3;107(6):1078-1095. doi: 10.1016/j.ajhg.2020.11.002. Epub 2020 Nov 19. Am J Hum Genet. 2020. PMID: 33217308 Free PMC article.
-
Knockdown of alpha myosin heavy chain disrupts the cytoskeleton and leads to multiple defects during chick cardiogenesis.J Anat. 2009 Jun;214(6):905-15. doi: 10.1111/j.1469-7580.2009.01079.x. J Anat. 2009. PMID: 19538634 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
Molecular Biology Databases