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

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.

Figure 2 Creatine kinase-related gene test. No large fragment variation of the patient was found in LAMA2 gene.