β-myosin heavy chain gene mutations in familial hypertrophic cardiomyopathy: The usual suspect?

Circulation Research

Volumn 90, Issue 3, 2002, Pages 246-247

  McNally, Elizabeth M ^a  

^a UChicago Medicine   (United States)

Author keywords

Hypertrophic cardiomyopathy; Light meromyosin; Mutation; Myosin; Thick filament

Indexed keywords

MYOSIN; MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN BETA; UNCLASSIFIED DRUG;

ACTIN FILAMENT; AMINO ACID SUBSTITUTION; CONFORMATIONAL TRANSITION; CONGESTIVE HEART FAILURE; CRYSTAL STRUCTURE; EDITORIAL; GENE ISOLATION; GENE MUTATION; GENETIC DISORDER; GENETIC HETEROGENEITY; HEART ARRHYTHMIA; HUMAN; HYDROLYSIS; HYPERTROPHIC CARDIOMYOPATHY; MISSENSE MUTATION; MYH7 GENE; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN ANALYSIS; SARCOMERE; SKELETAL MUSCLE;

EID: 0037155053     PISSN: 00097330     EISSN: None     Source Type: Journal    
DOI: 10.1161/res.90.3.246     Document Type: Editorial

References (11)

1. Familial hypertrophic cardiomyopathy: From mutations to functional defects
2. Three-dimensional structure of myosin subfragment-1: A molecular motor
3. Structural interpretation of the mutations in the β-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy
4. Mutations of the light meromyosin domain of β-myosin heavy chain rod in hypertrophic cardiomyopathy
5. Studies of the interaction between titin and myosin
6. Molecular structure of the sarcomeric M band: Mapping of titin and myosin binding domains in myomesin and the identification of a potential regulatory phosphorylation site in myomesin
7. Regulation of α-helical coiled-coil dimerization in chicken skeletal muscle light meromyosin
8. A 29 residue region of the sarcomeric myosin rod is necessary for filament formation
9. The in vitro motility activity of β-cardiac myosin depends on the nature of the β-myosin heavy chain gene mutation in hypertrophic cardiomyopathy
10. R403Q and L908V mutant β-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level