Previous case reports have shown that the IVS6 + 5G > C mutation of the LAMP2 gene can lead to the skipping of exon 6 of the posttranscriptional mRNA, and point mutations in introns 1 and 5 can result in abnormal splicing of the mRNA.[17] Moreover, in spite of the same LAMP2 mutation, the affected individuals exhibited varying degrees of clinical features, including hypertrophic cardiomyopathy, skeletal myopathy and developmental delay. Here, LAMP2 is linked to hypertrophic cardiomyopathy.