Key result
A mutation in the TPM3 gene was identified in a 38-year-old woman with cap disease, supporting the concept that cap disease is genetically heterogeneous.
Population
1 38-year-old woman with cap disease (congenital myopathy)
Design
Case_report
Authors
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Supports TPM3 inclusion in cap disease panels; leaves open broader phenotypic correlations pending larger cohorts.
Case Report (n=1)
The identification of a TPM3 mutation in a patient with cap disease supports the concept that the condition is genetically heterogeneous and closely related to nemaline myopathy.
Ohlsson et al. (2009) conducted a case report in cap disease (n=1). TPM3 mutation was evaluated. A mutation in the TPM3 gene was identified in a 38-year-old woman with cap disease, supporting the concept that cap disease is genetically heterogeneous.
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