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

Sulaiman Almobarak; Jonathan Hu; Kristopher D Langdon; Lee-Cyn Ang; Craig Campbell

doi:10.1002/ccr3.3866

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

Clin Case Rep. 2021 Feb 3;9(3):1672-1676. doi: 10.1002/ccr3.3866. eCollection 2021 Mar.

Authors

Sulaiman Almobarak^{1

2}, Jonathan Hu³, Kristopher D Langdon⁴, Lee-Cyn Ang^{3

5}, Craig Campbell^{1

3

6}

Affiliations

¹ Department of Paediatrics Children's Hospital London Health Sciences Centre London ON Canada.
² Departments of Neuroscience King Faisal Specialist Hospital & Research Center Riyadh Saudi Arabia.
³ Schulich School of Medicine & Dentistry Western University London ON Canada.
⁴ Department of Pathology Foothills Medical Centre University of Calgary Calgary AB Canada.
⁵ Department of Pathology and Laboratory University Hospital London Health Sciences Centre London ON Canada.
⁶ Department of Pediatrics Clinical Neurological Sciences and Epidemiology University of Western Ontario Children's Hospital London Health Sciences Centre London ON Canada.

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: TPM3; congenital myopathy; nemaline myopathy; neuromuscular disease; tropomyosin.

Publication types

Case Reports