Key result
Muscle biopsy revealed characteristic nemaline rods, and genetic testing identified an ACTA1 mutation in one patient and compound heterozygous NEB mutations in the other.
Population
2 patients with childhood-onset nemaline myopathy
Design
Case_series
Authors
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May aid recognition of rare myopathies in children; leaves open need for larger cohorts to define prevalence and outcomes.
Case Report (n=2)
Pathological and genetic diagnosis identified specific ACTA1 and NEB mutations in two cases of childhood-onset nemaline myopathy.
Huang et al. (2018) conducted a case report in Childhood-onset nemaline myopathy (n=2). Diagnostic workup (muscle biopsy and genetic testing) was evaluated. Muscle biopsy revealed characteristic nemaline rods, and genetic testing identified an ACTA1 mutation in one patient and compound heterozygous NEB mutations in the other.
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