Paediatrics Publications
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.
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