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α‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy
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, diagnos...
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| Gepubliceerd in: | Clin Case Rep |
|---|---|
| Hoofdauteurs: | , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
John Wiley and Sons Inc.
2021
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7981619/ https://ncbi.nlm.nih.gov/pubmed/33768912 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.3866 |
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