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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Bibliographic Details
Published in:Clinical case reports 2021-03, Vol.9 (3), p.1672-1676
Main Authors: Almobarak, Sulaiman, Hu, Jonathan, Langdon, Kristopher D., Ang, Lee‐Cyn, Campbell, Craig
Format: Article
Language:English
Subjects:
Biopsy
Case Report
Case Reports
Congenital diseases
congenital myopathy
Enzymes
Failure to thrive
Genes
Kinases
Musculoskeletal system
Mutation
nemaline myopathy
neuromuscular disease
Ostomy
Pregnancy
TPM3
Tracheotomy
tropomyosin
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Summary: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. 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.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.3866