2024年12月25日 · MYH7 (Myosin Heavy Chain 7) is a Protein Coding gene. Diseases associated with MYH7 include Myopathy, Distal, 1 and Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive. Among its related pathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and PAK Pathway.

Myosin-7 is a protein that in humans is encoded by the MYH7 gene. It is the myosin heavy chain beta (MHC-β) isoform (slow twitch) expressed primarily in the heart, but also in skeletal muscles (type I fibers). [5] This isoform is distinct from the fast isoform of cardiac myosin heavy chain, MYH6, referred to as MHC-α.

The MYH7 gene mutations that cause myosin storage myopathy change amino acids in the tail region of cardiac β-myosin heavy chain. Researchers suggest that these mutations impair the proper formation of thick filaments.

2023年4月20日 · MYH7 is one of the most important sarcomere protein encoding genes, and its variants are disease-causative for a series of cardiomyopathy and skeletal myopathy, which sometimes exhibit clinical overlap. MYH7 can also affect a limited number of

Muscle Myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac Myosin. It is expressed predominantly in normal human ventricle.

2016年7月7日 · Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation.

Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7 -related DCM are poorly described. We sought to determine the phenotype and prognosis of MYH7 -related DCM.

肥厚性心肌病 （Hypertrophic cardiomyopathy，HCM） 是一种原因不明的心肌疾病，特征为心室壁呈不对称性肥厚，常侵及室间隔，心室内腔变小，左心室血液充盈受阻，左心室舒张期顺应性下降。 根据左心室流出道有无梗阻分为梗阻性及非梗阻性肥厚型心肌病，是常染色体显性遗传性疾病。 HCM60%～70%为家族性，30%～40%为散发性，家族性病例、散发病例、儿童病例和成年病例具有同样的致病基因突变。 目前已证实，至少14个基因突变与肥厚型心肌病的发病有关， …

2025年3月4日 · Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle.

2023年8月9日 · Background: MYH7 variants cause hypertrophic cardiomyopathy (HCM), noncompaction cardiomyopathy (NCCM), and dilated cardiomyopathy (DCM). Screening of relatives of patients with genetic cardiomyopathy is recommended from 10 to 12 years of age onward, irrespective of the affected gene.