Condition: Nemaline myopathy 4


rs104894128 in TPM2 gene and Nemaline myopathy 4 PMID 11738357 2002 Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.

PMID 17846275 2007 Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).

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

PMID 17434307 2007 Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2.

PMID 19345583 2009 Cap disease due to mutation of the beta-tropomyosin gene (TPM2).

PMID 19047562 2008 New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations.

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