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Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Additionally we are shipping MYH8 Antibodies (13) and MYH8 Kits (10) and many more products for this protein.
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Loss-of-function variants in the MYH8 gene do not cause autosomal dominant trismus-pseudocamptodactyly syndrome.
a family in which two out three sibs affected with trismus pseudocamptodactyly, born from healthy nonconsanguineous parents, were heterozygous for the c.2021G > A mutation due to a possible germline mosaicism in MYH8
We describe a novel heart-hand syndrome involving familial cardiac myxomas and distal arthrogryposis and demonstrate that these disorders are caused by a founder mutation in the MYH8 gene.
findings broaden the phenotype associated with p.R674Q mutations and support the use of MYH8 testing in patients with a clinical diagnosis of trimus-pseudocamptodactyly syndrome
Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome.
fetal-myosin heavy chain
, myosin heavy chain 8
, myosin heavy chain, skeletal muscle, perinatal
, myosin, heavy polypeptide 8, skeletal muscle, perinatal
, developmental myosin heavy chain neonatal
, fast myosin heavy chain