Neonatal nemaline myopathy associated with NEB variants and a favorable 3-year outcome: A case report

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27 Oct 2026 0 comments

RATIONALE: Nemaline myopathy (NM) is a rare congenital myopathy characterized by muscle weakness and hypotonia. Severe neonatal disease may involve respiratory failure and bulbar dysfunction. Variants in the nebulin gene (NEB) are a common genetic cause, but genotype-phenotype relationships and prognosis remain variable.