1.11.c
Disorders of mitochondrial protein quality control
- Mitochondrial-processing peptidase alpha deficiency (Autosomal recessive spinocerebellar ataxia type 2)
- Mitochondrial-processing peptidase beta deficiency
- Mitochondrial intermediate peptidase deficiency (Combined oxidative phosphorylation deficiency type 31)
- CLPB deficiency (3-methylglutaconic aciduria type 7, with cataracts, neurologic involvement and neutropenia)
- CLPP deficiency (Perrault syndrome type 3)
- CLPX deficiency (Erythropoietic protoporphyria type 2)
- LONP1 deficiency (Cerebral, ocular, dental, auricular, and skeletal syndrome – CODAS syndrome)
- HSPA9 deficiency (Sideroblastic anemia type 4; epiphyseal, vertebral, ear, nose, plus associated malformations syndrome – EVEN-plus syndrome)
- HSP60 deficiency (Hypomyelinating leukodystrophy type 4, recessive; autosomal dominant spastic paraplegia type 13)
- HSPE1 deficiency
- FBXL4 deficiency (Mitochondrial DNA depletion syndrome type 13)
- Sacsin deficiency (Autosomal recessive spastic ataxia of Charlevoix-Saguenay)
- m-AAA protease subunit AFG3L2 deficiency (Autosomal recessive spastic ataxia type 5; spinocerebellar ataxia type 28)
- Paraplegin deficiency (Spastic paraplegia type 7)
- ATAD3A deficiency (Harel-Yoon syndrome)
- HTRA2 deficiency (3-methylglutaconic aciduria type 8)
- Parkin deficiency (Early-onset Parkinson disease type 2)
- PINK1 deficiency (Early-onset Parkinson disease type 6)
- Pitrilysin metallopeptidase 1Â deficiency
- YME1L1 deficiency (Optic atrophy type 11)
- Oxa1-like deficiency
