The most common known cause of the syndrome are mutations in the Proteasome Subunit, Beta Type, 8 (PSMB8) gene that codes for proteasomes that in turn break down other proteins. This occurs specifically when a mutation causes the homozygous recessive form to emerge. The mutated gene results in proteins not being degraded and oxidative proteins building up in cellular tissues, eventually leading to apoptosis, especially in muscle and fat cells. A study conducted by Brehm et al. in November 2015 discovered additional mutations that can cause<unk> , including PSMA3 (encodes α7), PSMB4 (encodes β7), PSMB9 (encodes β1i), and the proteasome maturation protein (POMP), with 8 mutations in total between them. An additional unknown mutation type in the original PSMB8 gene was also noted.
CANDLE syndrome
McGillivray syndrome
RIDDLE syndrome
Kearns–Sayre syndrome
RAPADILINO syndrome
CAMFAK syndrome
Bart syndrome
Senior–Løken syndrome