Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy
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Central core diseaseAbnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathyMuscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to Lys)Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa geneMutations and sequence variation in the human myosin heavy chain IIa gene (MYH2)Differential cross-bridge kinetics of FHC myosin mutations R403Q and R453C in heterozygous mouse myocardiumMolecular genetic dissection of mouse unconventional myosin-VA: head region mutationsBiophysical properties of human β-cardiac myosin with converter mutations that cause hypertrophic cardiomyopathy.Familial hypertrophic cardiomyopathy owing to double heterozygosity for a 403Arg--> Trp mutation in exon 13 of the MYH7 gene and a novel mutation, 453Arg--> His, in exon 14 of the MYH7 gene: A case report.A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production.A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathyPrognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 geneStructural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathyDominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1.Systolic compression of epicardial coronary and intramural arteries in children with hypertrophic cardiomyopathy.Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).Hypertrophic cardiomyopathy: from gene defect to clinical disease.Mapping of the actomyosin interfaces.Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy.Alpha1-syntrophin-deficient skeletal muscle exhibits hypertrophy and aberrant formation of neuromuscular junctions during regeneration.Mice expressing mutant myosin heavy chains are a model for familial hypertrophic cardiomyopathyA mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.Abnormal skeletal muscle bioenergetics in familial hypertrophic cardiomyopathy.Thick and thin filament gene mutations in striated muscle diseases.Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.Myosinopathies: pathology and mechanisms.The sarcomeric M-region: a molecular command center for diverse cellular processes.Clinical utility gene card for: Multi-minicore disease.Clinical utility gene card for: Central core disease.Multiple disease genes cause hypertrophic cardiomyopathy.Multicore myopathy with restrictive cardiomyopathy.Familial hypertrophic cardiomyopathy: functional variance among individual cardiomyocytes as a trigger of FHC-phenotype development.The cardiac myosin heavy chain Arg-403-->Gln mutation that causes hypertrophic cardiomyopathy does not affect the actin- or ATP-binding capacities of two size-limited recombinant myosin heavy chain fragments.Coarse-graining protein structures with local multivariate features from molecular dynamicsGenomic Insights into Cardiomyopathies: A Comparative Cross-Species Review.
P2860
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P2860
Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年学术文章
@wuu
1993年学术文章
@zh-cn
1993年学术文章
@zh-hans
1993年学术文章
@zh-my
1993年学术文章
@zh-sg
1993年學術文章
@yue
1993年學術文章
@zh
1993年學術文章
@zh-hant
name
Missense mutations in the beta ...... in hypertrophic cardiomyopathy
@ast
Missense mutations in the beta ...... in hypertrophic cardiomyopathy
@en
type
label
Missense mutations in the beta ...... in hypertrophic cardiomyopathy
@ast
Missense mutations in the beta ...... in hypertrophic cardiomyopathy
@en
prefLabel
Missense mutations in the beta ...... in hypertrophic cardiomyopathy
@ast
Missense mutations in the beta ...... in hypertrophic cardiomyopathy
@en
P2093
P2860
P356
P1476
Missense mutations in the beta ...... in hypertrophic cardiomyopathy
@en
P2093
P2860
P304
P356
10.1073/PNAS.90.9.3993
P407
P577
1993-05-01T00:00:00Z