×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Hereditary myopathy with early respiratory failure: occurrence in various populations.
23606733
2014
×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain.
24636144
2014
×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
GeneticVariation
CLINVAR
Atypical phenotypes in titinopathies explained by second titin mutations.
24395473
2014
×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.
23486992
2014
×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians.
25448463
2014
×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
24105469
2014
×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.
23418287
2013
×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
GeneticVariation
CLINVAR
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
23975875
2013
×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.
24119082
2013
×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
23975875
2013
×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Next generation sequencing for molecular diagnosis of neuromuscular diseases.
22526018
2012
×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Truncations of titin causing dilated cardiomyopathy.
22335739
2012
×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
GeneticVariation
CLINVAR
Truncations of titin causing dilated cardiomyopathy.
22335739
2012
×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
LOVD v.2.0: the next generation in gene variant databases.
21520333
2011
×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
18948003
2008
×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
GeneticVariation
CLINVAR
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
18948003
2008
×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
17444505
2007
×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
GeneticVariation
CLINVAR
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
17444505
2007
×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.
15728284
2005
×
Entrez Id:
100506866
Gene Symbol:
TTN-AS1
TTN-AS1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.100
CausalMutation
CLINVAR
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.
12145747
2002