Condition: ARTHROGRYPOSIS, DISTAL, TYPE 1


rs104894127 in TPM2 gene and ARTHROGRYPOSIS, DISTAL, TYPE 1 PMID 12592607 2003 Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.

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

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

PMID 24657080 2014 The E117K mutation in β-tropomyosin disturbs concerted conformational changes of actomyosin in muscle fibers.

PMID 11738357 2002 Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.

PMID 23689010 2013 The nemaline myopathy-causing E117K mutation in β-tropomyosin reduces thin filament activation.

PMID 22084935 2012 Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy.

PMID 30285720 2018 Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families.

PMID 17339586 2007 Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation.

PMID 23678273 2013 First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome.

PMID 23413262 2013 Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.

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 23378224 2013 K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.