Key result
A heterozygous missense mutation, R133W, in the TPM2 gene was identified as the cause of muscle weakness and distal arthrogryposis type 2B in two related patients.
Case Report (n=2)
Demonstrates that distal arthrogryposis type 2B can be caused by mutations in TPM2, highlighting the role of muscle dysfunction in its pathogenesis.
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Supports TPM2 testing in distal arthrogryposis type 2B; leaves open validation in larger cohorts before changing practice.
Tajsharghi et al. (2007) conducted a case report in Distal arthrogryposis type 2B and muscle weakness (n=2). Heterozygous missense mutation R133W in TPM2 was evaluated on Muscle weakness and distal arthrogryposis type 2B. A heterozygous missense mutation, R133W, in the TPM2 gene was identified as the cause of muscle weakness and distal arthrogryposis type 2B in two related patients.
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