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α-tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy
Sulaiman Almobarak1,2, Jonathan Hu3, Kristopher D Langdon4
1Department of Paediatrics Children's Hospital London Health Sciences Centre London ON Canada.
Clinical Case Reports
|March 26, 2021
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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