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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Detalles Bibliográficos
Autores principales: Almobarak, Sulaiman, Hu, Jonathan, Langdon, Kristopher D., Ang, Lee‐Cyn, Campbell, Craig
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7981619/
https://www.ncbi.nlm.nih.gov/pubmed/33768912
http://dx.doi.org/10.1002/ccr3.3866
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author Almobarak, Sulaiman
Hu, Jonathan
Langdon, Kristopher D.
Ang, Lee‐Cyn
Campbell, Craig
author_facet Almobarak, Sulaiman
Hu, Jonathan
Langdon, Kristopher D.
Ang, Lee‐Cyn
Campbell, Craig
author_sort Almobarak, Sulaiman
collection PubMed
description 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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spelling pubmed-79816192021-03-24 α‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy Almobarak, Sulaiman Hu, Jonathan Langdon, Kristopher D. Ang, Lee‐Cyn Campbell, Craig Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2021-02-03 /pmc/articles/PMC7981619/ /pubmed/33768912 http://dx.doi.org/10.1002/ccr3.3866 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Almobarak, Sulaiman
Hu, Jonathan
Langdon, Kristopher D.
Ang, Lee‐Cyn
Campbell, Craig
α‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy
title α‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy
title_full α‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy
title_fullStr α‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy
title_full_unstemmed α‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy
title_short α‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy
title_sort α‐tropomyosin gene (tpm3) mutation in an infant with nemaline myopathy
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7981619/
https://www.ncbi.nlm.nih.gov/pubmed/33768912
http://dx.doi.org/10.1002/ccr3.3866
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