Population
40 unrelated patients with nemaline myopathy (NM)
Design
Cohort
Authors
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Low TPM3 yield in NM supports deprioritizing it in initial panels; leaves open refined prevalence from larger cohorts.
TPM3 mutations are a rare cause of nemaline myopathy, accounting for less than 3% of cases, with variable clinical severity.
Wattanasirichaigoon et al. (2002) studied this question.
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