[Genetic basis of Leber's hereditary optic neuroretinopathy].
Basic information about mitochondrial inheritance have been presented. The nature of inheritance of Leber's hereditary optic neuroretinopathy (LHON) has been described. The recent reports about heterogeneity of mutations, heteroplasm and nucleo-mitochondrial interaction have been taken into consideration. Principles of modern genetic diagnostics and counselling of LHON have been described.
Krawczyński
M R
MR
Pracowni Genetyki Medycznej, IV Kliniki Chorób Dzieci, Instytutu Pediatrii AM, Poznaniu.
Pecold
K
K
D004272:DNA, Mitochondrial / Q000032:analysis; D005817:Genetic Counseling; D006801:Humans; D009154:Mutation; D015418:Optic Atrophies, Hereditary / Q000235:genetics*
D004272:DNA, Mitochondrial
Podłoze genetyczne zaniku nerwów wzrokowych typu Lebera.