Una malattia neurologica progressiva definita da specifiche caratteristiche neuropatologiche associate a lesioni del tronco encefalico e dei gangli della base.
Geni analizzati
- AIFM1
- ATP5MK
- BTD
- COX10
- DLAT
- DLD
- EARS2
- ECHS1
- ETHE1
- FARS2
- FBXL4
- FOXRED1
- GFM1
- GFM2
- GTPBP3
- HIBCH
- HPDL
- LIPT1
- LRPPRC
- MECR
- MFF
- MRPS34
- MT-ATP6
- MT-ND1
- MT-ND3
- MT-ND4
- MT-ND5
- MT-ND6
- MT-TK
- MT-TV
- MTFMT
- MTRFR
- NDUFA1
- NDUFA13
- NDUFA2
- NDUFA9
- NDUFAF2
- NDUFAF5
- NDUFAF6
- NDUFAF8
- NDUFB8
- NDUFC2
- NDUFS1
- NDUFS2
- NDUFS3
- NDUFS4
- NDUFS7
- NDUFS8
- NDUFV1
- NUBPL
- OPA1
- PDHA1
- PDHB
- PDHX
- PDSS2
- PET100
- PNPT1
- SCO2
- SDHA
- SERAC1
- SLC19A3
- SUCLA2
- SUCLG1
- SURF1
- TACO1
- TPK1
- TRMU
- TSFM
- TTC19
Conosciuto anche come
infantile subacute necrotizing encephalopathy; Leigh disease; Leigh syndrome spectrum; Leigh's disease; Leigh's necrotizing encephalopathy; LS; LSS; necrotizing encephalopathy, infantile Subacute, of Leigh; SNE; subacute necrotizing encephalopathy
Include 4 sottotipi correlati ↓Nascondi i sottotipi ↑
- congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- Leigh syndrome with cardiomyopathy
- maternally-inherited Leigh syndrome
- necrotizing encephalomyelopathy, subacute, of Leigh, adult
