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. This evidence concerns the gene LAMP2 and Skeletal myopathy.