Open Accessα‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy
Author(s) -
Almobarak Sulaiman,
Hu Jonathan,
Langdon Kristopher D.,
Ang LeeCyn,
Campbell Craig
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.3866
Subject(s) - nemaline myopathy , medicine , mutation , genetic counseling , genetic testing , genetics , congenital myopathy , myopathy , phenotype , gene mutation , disease , gene , pathology , biology , muscle biopsy , biopsy
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.