Variant: rs121964852 

    present in Gene: TPM3
    present in Chromosome: 1
    Position on Chromosome: 154172971
    Alleles of this Variant: C/T

rs121964852 in TPM3 gene and Congenital Fiber Type Disproportion PMID 19953533 2010 Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.

PMID 18300303 2008 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.

PMID 24692096 2014 Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

PMID 20951040 2010 Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia.

rs121964852 in TPM3 gene and Nemaline myopathy 1 PMID 19487656 2009 TPM3 mutation in one of the original cases of cap disease.

PMID 18300303 2008 Mutations in TPM3 are a common cause of congenital fiber type disproportion.

PMID 7704029 1995 A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.

PMID 22510848 2012 Clinical utility gene card for: nemaline myopathy.

PMID 24692096 2014 Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

PMID 19553118 2009 A TPM3 mutation causing cap myopathy.

PMID 24239060 2014 Novel TPM3 mutation in a family with cap myopathy and review of the literature.

PMID 17376686 2007 A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.

PMID 10587521 1999 A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production.