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

Authors

Sulaiman Almobarak, London Health Sciences Centre
Jonathan Hu, Schulich School of Medicine & Dentistry
Kristopher D. Langdon, University of Calgary
Lee Cyn Ang, Schulich School of Medicine & Dentistry
Craig Campbell, London Health Sciences CentreFollow

Document Type

Article

Publication Date

3-1-2021

Journal

Clinical Case Reports

Volume

9

Issue

3

First Page

1672

Last Page

1676

URL with Digital Object Identifier

10.1002/ccr3.3866

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.