Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Muscle biopsy was consistent with nemaline myopathy and novel homozygous missense mutation in TNNT1 was found.
|
31604653 |
2019 |
Myopathies, Nemaline
|
0.500 |
Biomarker
|
disease |
BEFREE |
TNNT1 nemaline myopathy: natural history and therapeutic frontier.
|
29931346 |
2018 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To date, only homozygous nonsense mutations or compound heterozygous truncating or internal deletion mutations in TNNT1 gene have been identified in NEM.
|
29178646 |
2017 |
Myopathies, Nemaline
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
More TNNT1 NM mutations have been reported recently with similar recessive phenotypes.
|
27429059 |
2016 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
More TNNT1 NM mutations have been reported recently with similar recessive phenotypes.
|
27429059 |
2016 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish.
|
25430424 |
2015 |
Myopathies, Nemaline
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
This report describes a novel pathogenic variant in the TNNT1 gene and represents a nemaline myopathy-causing variant in the TNNT1 gene outside of the Old Order Amish and Dutch ancestry.
|
25430424 |
2015 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The total loss of slow skeletal muscle troponin T (ssTnT encoded by TNNT1 gene) due to a nonsense mutation in codon Glu(180) causes a lethal form of recessively inherited nemaline myopathy (Amish nemaline myopathy, ANM).
|
24445317 |
2014 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A nonsense mutation at codon Glu180 in exon 11 of slow skeletal muscle troponin T (TnT) gene (TNNT1) causes an autosomal-recessive inherited nemaline myopathy.
|
15665378 |
2005 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
A nonsense mutation at codon Glu180 in exon 11 of slow skeletal muscle troponin T (TnT) gene (TNNT1) causes an autosomal-recessive inherited nemaline myopathy.
|
15665378 |
2005 |
Myopathies, Nemaline
|
0.500 |
Biomarker
|
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 |
Biomarker
|
disease |
BEFREE |
Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy.
|
12732643 |
2003 |
Myopathies, Nemaline
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A recessive mutation causing nemaline myopathy among the Old Order Amish has recently been identified in the gene for slow skeletal muscle troponin T. As linkage studies had shown that at least one further gene exists for nemaline myopathy, we investigated another tropomyosin gene expressed in skeletal muscle, the beta-tropomyosin 2 gene.
|
11738357 |
2002 |
Myopathies, Nemaline
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|