TPM3, tropomyosin 3, 7170

N. diseases: 297; N. variants: 25
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.740 CausalMutation disease CLINVAR Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. 27363342 2017
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
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
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
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
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
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
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
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
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
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
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.740 CausalMutation disease CLINVAR Congenital fiber type disproportion myopathy caused by LMNA mutations. 24642510 2014
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
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
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
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
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
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
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
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
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
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
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.740 GeneticVariation disease CLINVAR Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene. 22749829 2012
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.740 CausalMutation disease CLINVAR Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene. 22749829 2012
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.740 CausalMutation disease CLINVAR Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms. 22798622 2012
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
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
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.740 CausalMutation disease CLINVAR Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. 20554445 2010
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
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
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
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
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.740 GeneticVariation disease UNIPROT These cases highlight the neuromuscular transmission defect in CFTD secondary to TPM3 mutations. 20951040 2010
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
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
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.740 GeneticVariation disease BEFREE These cases highlight the neuromuscular transmission defect in CFTD secondary to TPM3 mutations. 20951040 2010
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.740 CausalMutation disease CLINVAR TPM3 mutation in one of the original cases of cap disease. 19487656 2009
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		0.740 CausalMutation disease CLINVAR A TPM3 mutation causing cap myopathy. 19553118 2009
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
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