Primary PIPO, including sporadic or familial myopathy, neuropathy, mesenchymopathy, mitochondrial diseases, or neuropathy, has been linked to mutations such as ACTG2, SOX10, POLGI, FLNA, L1CAM, MYH11, MYLK, LMOD1, MYL9, RET, TYMP, RAD21, and SGOL1 (20–22). Here, L1CAM is linked to inborn mitochondrial metabolism disorder.