α‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy

Abstract

Abstract We report a case of neonatal nemaline myopathy with a de novo TPM3 mutation, which has been classified as a likely pathogenic mutation. With the expanding use of genetic testing in congenital myopathies, genotype‐phenotype descriptions of novel variants are important to inform clinical care, diagnosis, genetic counseling, and management of disease.

Keywords

• congenital myopathy
• nemaline myopathy
• neuromuscular disease
• TPM3
• tropomyosin