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 |
BEFREE |
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 |
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 |
Myopathies, Nemaline
|
0.500 |
Biomarker
|
disease |
BEFREE |
Collectively, these results provide insights into the clinical features and pathogenesis of M9R-TPM3 nemaline myopathy.
|
18716557 |
2008 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The slow alpha-tropomyosin (TPM3) gene has to date been associated with few cases of both dominant and recessive nemaline myopathies.
|
17376686 |
2007 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Results of 164 muscle biopsies from 124 Australian and North American patients with primary nemaline myopathy were reviewed, including biopsies from 19 patients with nemaline myopathy due to alpha-actin (ACTA1) mutations and three with mutations in alpha-tropomyosin(SLOW) (TPM3).
|
12601110 |
2003 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
No linkage to the five known nemaline myopathy genes (alpha-tropomyosin-3, nebulin, alpha-actin, troponin T1 and beta-tropomyosin), to the ryanodine receptor gene (associated with core-rod myopathy) or to the 15q21-23 locus was found.
|
17157023 |
2007 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This is the first mutation identified in a constitutively expressed exon of TPM3 in a nemaline myopathy patient, but is similar to recently described mutations in beta-tropomyosin (TPM2) associated with nemaline myopathy and mutations in fast alpha-tropomyosin (TPM1) which cause hypertrophic cardiomyopathy.
|
12467750 |
2002 |
Myopathies, Nemaline
|
0.500 |
Biomarker
|
disease |
BEFREE |
This system can now be used to accurately demonstrate the effect of this (and other disease-associated tropomyosin mutations) on the interactions of tpm3 with the other protein components of the muscle thin filament, including those responsible for differing forms of nemaline myopathy.
|
12163017 |
2002 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.
|
18382475 |
2008 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report on the clinical, myopathological and muscle MRI findings in a German family with autosomal dominant NM due to a novel pathogenic TPM3 mutation (p.Ala156Thr).
|
20012312 |
2010 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Three genes are known to cause nemaline myopathy: the genes for nebulin (NEB) on chromosome 2q22, slow alpha-tropomyosin (TPM3) on chromosome 1q21 and skeletal muscle alpha-actin (ACTA1) on chromosome 1q42.
|
11166164 |
2001 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TPM3 were identified in 6 out of 13 patients with CFTD, as well as in one case of nemaline myopathy.
|
19953533 |
2010 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Five genes have now been associated with nemaline myopathy: alpha-tropomyosin-3 (TPM3), alpha-actin (ACTA1), nebulin (NEB), beta-tropomysin (TPM2) and troponin T (TNNT1).
|
12805120 |
2003 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
TPM3 mutations are a rare cause of NM, probably accounting for less than 3% of cases.
|
12196661 |
2002 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.
|
24095155 |
2013 |
Myopathies, Nemaline
|
0.500 |
Biomarker
|
disease |
BEFREE |
Genes for dominant (NEM1) and recessive (NEM2A) nemaline myopathy have been localised to chromosomes one and two, respectively.
|
10619715 |
1999 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We present a five-generation family with a novel phenotype of autosomal dominant nemaline myopathy not linked to the three genes known to be causative for nemaline myopathy (alpha-tropomyosin-3, nebulin, and alpha-actin).
|
11731279 |
2002 |
Myopathies, Nemaline
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Mutations in the human TPM3 gene encoding gamma-tropomyosin (alpha-tropomyosin-slow) expressed in slow skeletal muscle fibers cause nemaline myopathy.
|
11106625 |
2000 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Nemaline myopathy (NM) is the most common congenital myopathy and is caused by mutations in various genes including NEB (nebulin), TPM2 (beta-tropomyosin), TPM3 (gamma-tropomyosin), and ACTA1 (skeletal alpha-actin).
|
22358459 |
2012 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
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 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in three different genes have been identified as the cause of nemaline myopathy: the gene for slow alpha-tropomyosin 3 (TPM3) at 1q22-23, the nebulin gene (NEB) at 2q21.1-q22, and the actin gene (ACTA1) at 1q42.
|
11257471 |
2001 |
Inflammatory Myofibroblastic Tumor
|
0.370 |
AlteredExpression
|
disease |
BEFREE |
The histological findings and the expression of TPM3-ALK fusion gene confirmed a diagnosis of an inflammatory myofibroblastic tumor.
|
17063337 |
2007 |
Inflammatory Myofibroblastic Tumor
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
This approach accurately identified the nucleophosmin (NPM)-ALK fusion protein in an anaplastic large cell lymphoma (ALCL)-derived cell line carrying the t(2;5)(p23;q35), and the TPM3-ALK in a clinical biopsy of inflammatory myofibroblastic tumor (IMT) carrying the t(1;2)(q21;p23).
|
16651537 |
2006 |