Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms
about
Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusMyosin filament assembly requires a cluster of four positive residues located in the rod domainAutosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigsMutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes.Structural basis for myopathic defects engendered by alterations in the myosin rodMyosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells.Myosinopathies: pathology and mechanisms.Genetic biomarkers in hypertrophic cardiomyopathy.Structural implications of β-cardiac myosin heavy chain mutations in human disease.The sarcomeric M-region: a molecular command center for diverse cellular processes.Integrated Transcriptome Map Highlights Structural and Functional Aspects of the Normal Human HeartNovel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.A mutation in the beta-myosin rod associated with hypertrophic cardiomyopathy has an unexpected molecular phenotype.MYH7 mutation associated with two phenotypes of myopathy.Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo.A1603P and K1617del, Mutations in β-Cardiac Myosin Heavy Chain that Cause Laing Early-Onset Distal Myopathy, Affect Secondary Structure and Filament Formation In Vitro and In Vivo.
P2860
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P2860
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms
description
2009 nî lūn-bûn
@nan
2009 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms
@ast
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms
@en
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms
@en-gb
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms
@nl
type
label
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms
@ast
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms
@en
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms
@en-gb
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms
@nl
prefLabel
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms
@ast
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms
@en
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms
@en-gb
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms
@nl
P2860
P356
P1476
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms
@en
P2093
Thomas Z Armel
P2860
P304
P356
10.1073/PNAS.0900107106
P407
P577
2009-03-31T00:00:00Z