Detection of LAMA2 c.715C>G:p.R239G mutation in a newborn with raised creatine kinase: A case report

BACKGROUND We report a rare case of primary clinical presentation featuring elevated creatine kinase (CK) levels in a neonate, which is associated with the LAMA2 gene. In this case, a heterozygous mutation in exon5 of the LAMA2 gene, c.715C>G (resulting in a change of nucleotide number 715 in the...

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Bibliographic Details
Published inWorld journal of clinical cases Vol. 12; no. 14; pp. 2445 - 2450
Main Authors Yuan, Jing, Yan, Xiang-Ming
Format Journal Article
LanguageEnglish
Published United States Baishideng Publishing Group Inc 16.05.2024
Subjects
Case Report
Case report
Neonate
LAMA2
Creatine kinase
Gene mutation
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ISSN2307-8960
2307-8960
DOI10.12998/wjcc.v12.i14.2445

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