Condition: Nemaline myopathy 1


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.

PMID 22749829 2012 Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene.

PMID 26307083 2015 Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

PMID 24095155 2013 Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.

PMID 27363342 2017 Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.

PMID 20554445 2010 Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.

PMID 21357678 2011 Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.

PMID 24507666 2014 Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy.

PMID 24642510 2014 Congenital fiber type disproportion myopathy caused by LMNA mutations.

PMID 23886664 2013 Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients.

PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

PMID 12467750 2002 De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy.

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

PMID 22798622 2012 Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.

PMID 10619715 1999 Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy.