Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation
about
Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathyEffects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibresMyosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1A myopathy-linked tropomyosin mutation severely alters thin filament conformational changes during activation.A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice.Expression profiles of muscle disease-associated genes and their isoforms during differentiation of cultured human skeletal muscle cells.Phenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures.Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscleAMC: amyoplasia and distal arthrogryposis.Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome.Thick and thin filament gene mutations in striated muscle diseases.Arthrogryposis multiplex congenita: classification, diagnosis, perioperative care, and anesthesia.MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposisFreeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan AfricaBeta-tropomyosin mutations alter tropomyosin isoform composition.Myofilament lattice structure in presence of a skeletal myopathy-related tropomyosin mutation.Tropomyosin in the groove? Molecular insights into an inherited myopathy
P2860
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P2860
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation
description
2007 nî lūn-bûn
@nan
2007 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի մարտին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation
@ast
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation
@en
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation
@nl
type
label
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation
@ast
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation
@en
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation
@nl
prefLabel
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation
@ast
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation
@en
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation
@nl
P2093
P1433
P1476
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation
@en
P2093
D Holmgren
H Tajsharghi
M Tulinius
P356
10.1212/01.WNL.0000256339.40667.FB
P407
P577
2007-03-06T00:00:00Z