Recombinant Human Myosin-3 (MYH3), partial

1. Although some MYH3 variants cause dominant Spondylocarpotarsal synostosis syndrome, these data indicate that others (notably truncating variants) do not, except in the context of compound heterozygosity for a second hypomorphic allele. PMID: 29805041
2. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. PMID: 30228365
3. Our findings demonstrate that dominant mutations in MYH3 underlie autosomal dominant SCT, identify a postnatal role for embryonic myosin and suggest that altered regulation of signal transduction in the muscles within the spine may lead to the development of vertebral fusions. PMID: 28205584
4. our patient is the first reported case of a child with classical FSS, caused by a common MYH3 mutation, who has an unaffected mother with molecularly proven somatic mosaicism, who is also a likely gonadal mosaic. This case emphasizes the importance of parental genetic testing, when a clinically apparent de novo diagnosis is suspected in a child. PMID: 26996280
5. Protein-altering variants of MYH3 were identified in two families with symptoms related to autosomal dominant spondylocarpotarsal synostosis syndrome. PMID: 27381093
6. MYH3 mutations are associated with Freeman-Sheldon Syndrome. PMID: 26945064
7. developmental p.Thr178Ile MYH3 myopathy is associated with a combined pathomechanism of insufficient dosage of functional embryonic MyHC and production of mutant protein PMID: 26544689
8. The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle PMID: 25740846
9. The phenotypic overlap among persons with MPS, coupled with physical findings distinct from other conditions caused by mutations in MYH3. PMID: 25957469
10. Molecular genetic investigations revealed pathogenic mutations in MYH3, TPM2, and TNNI2 in one sporadic and 19 familial cases of distal arthrogryposis. PMID: 22519952
11. eMYH plays a crucial role in important processes in the early developing heart and, hence, is a candidate causative gene for atrial septal defects and cardiomyopathy. PMID: 21862559
12. Identification of an MYH3 mutation in this family with distal arthrogryposis type 1 broadens the phenotype associated with MYH3 mutations to include distal arthrogryposis types 1, 2A (Freeman-Sheldon syndrome), and 2B (Sheldon-Hall syndrome). PMID: 21531865
13. show that mutations in the embryonic myosin heavy chain 3 gene cause Freeman-Sheldon syndrome, one of the most severe multiple congenital contracture syndromes, and nearly 1/3 of all cases of Sheldon-Hall syndrome, the most common distal arthrogryposis PMID: 16642020
14. This article reports novel MYH3 mutations associated with distal arthrogryposis and demonstrates myopathic changes in muscle biopsy specimens from 4 patients with distal arthrogryposis and MYH3 mutations. PMID: 18695058
15. Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. PMID: 19142688

Show More

Hide All

HGNC: 7573

OMIM: 160720

KEGG: hsa:4621

STRING: 9606.ENSP00000226209

UniGene: Hs.440895