Homozygous deletion, c. 1114-1116del, in exon 8 of the CRPPA gene causes congenital muscular dystrophy in Chinese family: A case report

Figure 1 Magnetic resonance imaging of the right calf. The gastrocnemius muscle and soleus muscle showed mild atrophy, mainly in the medial head of the gastrocnemius muscle.

Figure 2 Congenital muscular dystrophy family. A: A pedigree with the CRPPA variant; B: The variant identified in the proband’s father; C: The variant identified in the proband’s mother; D: The variant identified in the proband. Arrows mean the site of the variant.