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

doi:10.12998/wjcc.v12.i14.2445

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May 16, 2024 (publication date) through Dec 25, 2024

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World Journal of Clinical Cases

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2307-8960

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Clin Cases. May 16, 2024; 12(14): 2445-2450
Published online May 16, 2024. doi: 10.12998/wjcc.v12.i14.2445

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Figure 1 Creatine kinase-related gene test. A: The patient, chr6:129465121 had a heterozygous mutation of c.715C>G:p.R239G in the gene LAMA2; B: The father, chr6:129465121 had a heterozygous mutation of c.715C>G:p.R239G; C: The mother, chr6:129465121 had no mutations.

Citation: Yuan J, Yan XM. Detection of LAMA2 c.715C>G:p.R239G mutation in a newborn with raised creatine kinase: A case report. World J Clin Cases 2024; 12(14): 2445-2450
URL: https://www.wjgnet.com/2307-8960/full/v12/i14/2445.htm
DOI: https://dx.doi.org/10.12998/wjcc.v12.i14.2445