Comprehensive genomic analysis was performed in a patient with mild psychomotor developmental delay, elevated creatine kinase, and white matter abnormalities. The results revealed biallelic pathogenic variants in the gene related to merosin-deficient congenital muscular dystrophy, NM_000426.3(LAMA2):c.1338_1339del [p.Gly447Phefs*7] and c.2749 + 2dup, which consist of compound heterozygous involvement with predicted loss-of-function and splicing abnormalities.

中文翻译：

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在患有白质异常的患者中发现了新的 LAMA2 变异。

对一名患有轻度精神运动发育迟缓、肌酸激酶升高和白质异常的患者进行了全面的基因组分析。结果揭示了与 merosin 缺陷型先天性肌营养不良症相关的基因 NM_000426.3(LAMA2):c.1338_1339del [p.Gly447Phefs*7] 和 c.2749 + 2dup 中存在双等位基因致病变异，这些变异由复合杂合子参与和预测组成。功能丧失和剪接异常。