Mutations in TPM3 are a common cause of congenital fiber type disproportion.
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Approach to the diagnosis of congenital myopathiesMutation 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 cardiomyopathyMutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patientsIdentification and characterization of tropomyosin 3 associated with granulin-epithelin precursor in human hepatocellular carcinomaWidespread macromolecular interaction perturbations in human genetic disordersMutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm.Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathyChanges in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.Tissue triage and freezing for models of skeletal muscle disease.Expression profiles of muscle disease-associated genes and their isoforms during differentiation of cultured human skeletal muscle cells.Nemaline myopathy type 6: clinical and myopathological features.Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicoresClinical 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.Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy.Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.Thick and thin filament gene mutations in striated muscle diseases.TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.Consensus statement on standard of care for congenital myopathies.A Large Deletion Affecting TPM3, Causing Severe Nemaline MyopathyDiagnosis of muscle diseases presenting with early respiratory failure.A Case Report of Congenital Fiber Type Disproportion with an Increased Level of Anti-ACh Receptor Antibodies.Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain- or loss-of-function.Myofilament lattice structure in presence of a skeletal myopathy-related tropomyosin mutation.Congenital myopathies: clinical phenotypes and new diagnostic tools.
P2860
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P2860
Mutations in TPM3 are a common cause of congenital fiber type disproportion.
description
2008 nî lūn-bûn
@nan
2008 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի մարտին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Mutations in TPM3 are a common cause of congenital fiber type disproportion.
@ast
Mutations in TPM3 are a common cause of congenital fiber type disproportion.
@en
Mutations in TPM3 are a common cause of congenital fiber type disproportion.
@nl
type
label
Mutations in TPM3 are a common cause of congenital fiber type disproportion.
@ast
Mutations in TPM3 are a common cause of congenital fiber type disproportion.
@en
Mutations in TPM3 are a common cause of congenital fiber type disproportion.
@nl
prefLabel
Mutations in TPM3 are a common cause of congenital fiber type disproportion.
@ast
Mutations in TPM3 are a common cause of congenital fiber type disproportion.
@en
Mutations in TPM3 are a common cause of congenital fiber type disproportion.
@nl
P2093
P50
P356
P1433
P1476
Mutations in TPM3 are a common cause of congenital fiber type disproportion.
@en
P2093
Annick Labarre-Vila
Edward S Johnson
Esther Lim
Hanna Kolski
Kathryn N North
Nicole Monnier
Nigel F Clarke
Norma B Romero
Rakesh Patel
Robert L L Smith
P2860
P304
P356
10.1002/ANA.21308
P577
2008-03-01T00:00:00Z