Condition: Congenital Fiber Type Disproportion


rs121909529 in ACTA1 gene and Congenital Fiber Type Disproportion PMID 15468086 2004 Actin mutations are one cause of congenital fibre type disproportion.

PMID 17387733 2007 The pathogenesis of ACTA1-related congenital fiber type disproportion.

rs121908188 in SELENON gene and Congenital Fiber Type Disproportion PMID 23394784 2013 Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.

PMID 12192640 2002 Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.

PMID 17951086 2008 The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy.

PMID 16365872 2006 Two sisters with CFTD were homozygous for the 943G-->A SEPN1 mutation and had clinical features typical of previously reported patients with SEPN1-related myopathy.

PMID 15668457 2005 Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale.

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.

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

PMID 18300303 2008 We sequenced TPM3 in 23 unrelated probands with CFTD or CFTD-like presentations of unknown cause and identified novel heterozygous missense mutations in five CFTD families (p. Leu100Met, p.Arg168Cys, p.Arg168Gly, p.Lys169Glu, p.Arg245Gly).

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

PMID 18300303 2008 We sequenced TPM3 in 23 unrelated probands with CFTD or CFTD-like presentations of unknown cause and identified novel heterozygous missense mutations in five CFTD families (p. Leu100Met, p.Arg168Cys, p.Arg168Gly, p.Lys169Glu, p.Arg245Gly).

PMID 19553118 2009 A TPM3 mutation causing cap myopathy.

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

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

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

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

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

PMID 19487656 2009 TPM3 mutation in one of the original cases of cap disease.

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

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

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

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

PMID 18300303 2008 We sequenced TPM3 in 23 unrelated probands with CFTD or CFTD-like presentations of unknown cause and identified novel heterozygous missense mutations in five CFTD families (p. Leu100Met, p.Arg168Cys, p.Arg168Gly, p.Lys169Glu, p.Arg245Gly).

PMID 18300303 2008 We sequenced TPM3 in 23 unrelated probands with CFTD or CFTD-like presentations of unknown cause and identified novel heterozygous missense mutations in five CFTD families (p. Leu100Met, p.Arg168Cys, p.Arg168Gly, p.Lys169Glu, p.Arg245Gly).