Autosomal recessive optic neuropathies: genetic variants, clinical manifestations

Hereditary optic neuropathies (HON) - a group of neurodegenerative diseases characterized by primary loss of structure and function of the retinal ganglion cells and subsequent death of their axons, development of partial optic nerve atrophy. Autosomal dominant optic neuropathy and Leber`s hereditar...

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Vydané v:	Vestnik oftal'mologii Ročník 138; číslo 6; s. 116
Hlavní autori:	Murakhovskaya, Yu K, Sheremet, N L, Shmelkova, M S, Krylova, T D, Tsygankova, P G
Médium:	Journal Article
Jazyk:	Russian
Vydavateľské údaje:	Russia (Federation) 2022
Predmet:	Carrier Proteins - genetics DNA, Mitochondrial Humans Membrane Proteins - genetics Mitochondrial Proteins - genetics Mutation Optic Atrophy Optic Atrophy, Hereditary, Leber - diagnosis Optic Atrophy, Hereditary, Leber - genetics Optic Nerve - pathology Optic Nerve Diseases - diagnosis Optic Nerve Diseases - genetics autosomal recessive optic neuropathies hereditary optic neuropathies mitochondrial optic neuropathies dominant optic atrophy Leber’s hereditary optic neuropathy recessive optic atrophy non-syndromic autosomal recessive optic neuropathies
ISSN:	0042-465X
On-line prístup:	Zistit podrobnosti o prístupe
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