Abstract
Nemaline myopathies (NEM) are heterogeneous congenital muscle disorders
that cause skeletal muscle weakness and in the most severe cases,
death.We describe a neonatal patient presenting with hypotonia and
muscle biopsy showing nemaline myopathy. Genetic testing identified a de
novo variant c.43G>C (p.Asp15His) in theTPM3 gene not
previously described
