| 1 | AFG3L2, SCA28, SPAX5 |
| Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation. | |
| Maltecca F, De Stefani D, Cassina L, Consolato F, Wasilewski M, Scorrano L, Rizzuto R, Casari G. | |
| Hum Mol Genet 21(17):3858-70. doi: 10.1093/hmg/dds214. Epub 2012 Jun 7. 2012 | |
| 2 | AF3GL2, SPAX5, SPG28 |
| Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. | |
| Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C. | |
| PLoS Genet 7(10):e1002325. doi: 10.1371/journal.pgen.1002325. Epub 2011 Oct 13. 2011 | |