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We report a case of neonatal nemaline myopathy with a de novoTPM3mutation, 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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Almobarak et al. (2021) studied this question.
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