Table 2.

Overview of mitochondrial mutations reported in patients with proximal tubular dysfunction

Category	Mutation	Reference
Isolated proximal tubulopathy	2.8 kbp deletion	Szalbocs et al. [55]
KSS	5 kbp deletion	Shoffner et al. [50]
KSS	5.4 kbp deletion	Mori et al. [48]
KSS/PMPS	7.4 kbp deletion	Lee et al. [54]
PMPS	3.3 kbp deletion	Solano et al. [45]
PMPS	4977 bp deletion	Niaudet et al. [51]
PMPS	5.7 kbp deletion	Majander et al. [52]
CCO	7.3 kbp deletion	Au et al. [53]