Congenital Fiber Type Disproportion
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.
|
27363342 |
2017 |
Congenital Fiber Type Disproportion
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.
|
26307083 |
2015 |
Congenital Fiber Type Disproportion
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.
|
26307083 |
2015 |
Congenital Fiber Type Disproportion
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Congenital fiber type disproportion with delayed fiber type maturation and the appearance of cap structures were analyzed in a child with p.Arg168Gly mutation in TPM3 gene.
|
23924754 |
2014 |
Congenital Fiber Type Disproportion
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
|
24692096 |
2014 |
Congenital Fiber Type Disproportion
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy.
|
24507666 |
2014 |
Congenital Fiber Type Disproportion
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Congenital fiber type disproportion myopathy caused by LMNA mutations.
|
24642510 |
2014 |
Congenital Fiber Type Disproportion
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
|
24692096 |
2014 |
Congenital Fiber Type Disproportion
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
|
24692096 |
2014 |
Congenital Fiber Type Disproportion
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
|
24692096 |
2014 |
Congenital Fiber Type Disproportion
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients.
|
23886664 |
2013 |
Congenital Fiber Type Disproportion
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.
|
24095155 |
2013 |
Congenital Fiber Type Disproportion
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene.
|
22749829 |
2012 |
Congenital Fiber Type Disproportion
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene.
|
22749829 |
2012 |
Congenital Fiber Type Disproportion
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.
|
22798622 |
2012 |
Congenital Fiber Type Disproportion
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.
|
21357678 |
2011 |
Congenital Fiber Type Disproportion
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.
|
20554445 |
2010 |
Congenital Fiber Type Disproportion
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Review of muscle biopsies from patients with diagnoses of CFTD revealed that patients with a TPM3 mutation all displayed marked disproportion of fiber size, without type 1 fiber predominance.
|
19953533 |
2010 |
Congenital Fiber Type Disproportion
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Review of muscle biopsies from patients with diagnoses of CFTD revealed that patients with a TPM3 mutation all displayed marked disproportion of fiber size, without type 1 fiber predominance.
|
19953533 |
2010 |
Congenital Fiber Type Disproportion
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
These cases highlight the neuromuscular transmission defect in CFTD secondary to TPM3 mutations.
|
20951040 |
2010 |
Congenital Fiber Type Disproportion
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Review of muscle biopsies from patients with diagnoses of CFTD revealed that patients with a TPM3 mutation all displayed marked disproportion of fiber size, without type 1 fiber predominance.
|
19953533 |
2010 |
Congenital Fiber Type Disproportion
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
These cases highlight the neuromuscular transmission defect in CFTD secondary to TPM3 mutations.
|
20951040 |
2010 |
Congenital Fiber Type Disproportion
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
TPM3 mutation in one of the original cases of cap disease.
|
19487656 |
2009 |
Congenital Fiber Type Disproportion
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
A TPM3 mutation causing cap myopathy.
|
19553118 |
2009 |
Congenital Fiber Type Disproportion
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We also report a sixth family in which a recurrent TPM3 mutation (p.Arg168His) was associated with histological features of CFTD and nemaline myopathy in different family members.
|
18300303 |
2008 |