Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
about
Approach to the diagnosis of congenital myopathiesDirect observation of tropomyosin binding to actin filaments.Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathiesDigenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathyNormal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenanceChanges in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.Tissue triage and freezing for models of skeletal muscle disease.Clinical utility gene card for: nemaline myopathyClinical utility gene card for: Nemaline myopathy - update 2015.Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy.A Large Deletion Affecting TPM3, Causing Severe Nemaline MyopathyDiagnosis of muscle diseases presenting with early respiratory failure.Intrinsic indicators for specimen degradation.Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.Congenital myopathies: clinical phenotypes and new diagnostic tools.Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany.MicroRNA profiling associated with muscle growth in modern broilers compared to an unselected chicken breed
P2860
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P2860
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
description
2010 nî lūn-bûn
@nan
2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Mutations of tropomyosin 3 (TP ...... ital fiber type disproportion.
@ast
Mutations of tropomyosin 3 (TP ...... ital fiber type disproportion.
@en
type
label
Mutations of tropomyosin 3 (TP ...... ital fiber type disproportion.
@ast
Mutations of tropomyosin 3 (TP ...... ital fiber type disproportion.
@en
prefLabel
Mutations of tropomyosin 3 (TP ...... ital fiber type disproportion.
@ast
Mutations of tropomyosin 3 (TP ...... ital fiber type disproportion.
@en
P2093
P2860
P356
P1433
P1476
Mutations of tropomyosin 3 (TP ...... ital fiber type disproportion.
@en
P2093
Alan H Beggs
Amelia S Geggel
Behzad Moghadaszadeh
Elizabeth T Dechene
Emily Roumm
Michael W Lawlor
P2860
P304
P356
10.1002/HUMU.21157
P577
2010-02-01T00:00:00Z