Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies
about
Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features.Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations.Alterations at the cross-bridge level are associated with a paradoxical gain of muscle function in vivo in a mouse model of nemaline myopathyMuscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.Skeletal muscle fiber type: using insights from muscle developmental biology to dissect targets for susceptibility and resistance to muscle disease.A Large Deletion Affecting TPM3, Causing Severe Nemaline MyopathyPrenatal diagnosis of congenital myopathies and muscular dystrophies.Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.Sarcomere Dysfunction in Nemaline Myopathy.Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.Noncanonical roles for Tropomyosin during myogenesis.An adult with a rare form of congenital fiber type disproportion.1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome.Kyphoscoliosis and easy fatigability in a 14-year-old boy
P2860
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P2860
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies
description
2014 nî lūn-bûn
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2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
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2014 թվականի հուլիսին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年論文
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2014年论文
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Mutation update and genotype-p ...... causing congenital myopathies
@ast
Mutation update and genotype-p ...... causing congenital myopathies
@en
Mutation update and genotype-p ...... causing congenital myopathies
@nl
type
label
Mutation update and genotype-p ...... causing congenital myopathies
@ast
Mutation update and genotype-p ...... causing congenital myopathies
@en
Mutation update and genotype-p ...... causing congenital myopathies
@nl
prefLabel
Mutation update and genotype-p ...... causing congenital myopathies
@ast
Mutation update and genotype-p ...... causing congenital myopathies
@en
Mutation update and genotype-p ...... causing congenital myopathies
@nl
P2093
P2860
P50
P3181
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Mutation update and genotype-p ...... causing congenital myopathies
@en
P2093
Ana Lia Taratuto
Bruno Eymard
Carina Wallgren-Pettersson
Cheryl Longman
Christine Barnerias
Ekkehard Wilichowski
Frank J Probst
Hanna Kolski
Hans Lochmüller
Helena Pihko
P2860
P304
P3181
P356
10.1002/HUMU.22554
P407
P50
P577
2014-07-01T00:00:00Z