Key result
TPM3 mutations were identified in 6 out of 13 patients with congenital fiber type disproportion, all of whom displayed marked disproportion of fiber size without type 1 fiber predominance.
Why the study?
What is the prevalence of TPM3 mutations in patients with congenital fiber type disproportion?
Population
Patients with a clinical diagnosis of congenital fiber type disproportion, nemaline myopathy, and undefined…
Design
Cross-sectional
Authors
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TPM3 mutations may warrant targeted testing in CFTD with marked fiber disproportion; leaves open broader prevalence and testing guidelines pending larger studies.
Observational (n=13)
What is the prevalence of TPM3 mutations in patients with congenital fiber type disproportion?
TPM3 mutations are a common cause of congenital fiber type disproportion, and genetic testing is supported by specific pathologic findings like marked fiber size disproportion.
Lawlor et al. (2009) conducted an observational in Congenital fiber type disproportion (CFTD), nemaline myopathy, and undefined congenital myopathies (n=13). TPM3 gene mutation vs. No TPM3 mutation was evaluated on Presence of TPM3 mutations. TPM3 mutations were identified in 6 out of 13 patients with congenital fiber type disproportion, all of whom displayed marked disproportion of fiber size without type 1 fiber predominance.
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