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Leber hereditary optic neuropathy (LHON) is a major cause of inherited blindness in young males. Approximately 1 in 7 individuals with LHON harbor a mixture of mutated and wild‐ type (normal) mtDNA ...
Leber hereditary optic neuropathy (LHON) is a major cause of inherited blindness in young males. Approximately 1 in 7 individuals with LHON harbor a mixture of mutated and wild‐ type (normal) mtDNA ...
carrying the 11778 mutation associated with Leber's hereditary optic neuropathy.J Biol Chem199627113155131618662757HRCockSJTabriziJMCooperAHVSchapiraThe influence of nuclear background on the biochemical ...
of this mutation may be conditioned by the haplogroup of the carrier to reveal a possible influence of the mtDNA genetic background on the phenotypic expression of the mutation but not tested in the present study ...
Abstract Leber’s hereditary optic neuropathy is a maternally inherited blinding disease caused as a result of homoplasmic point mutations in complex I subunit genes of mitochondrial DNA ...
Abstract The mutations in the genes encoding the subunits of complex I of the mitochondrial electron transport chain are the most common cause of Leber’s hereditary optic neuropathy (LHON ...
ataxia . Am J Ophthalmol . 1980;90:597-603. 12. Woodworth JA, Beckett RS, Netsky MG. A composite of hereditary ataxias: a familial disorder with features of olivopontocerebellar atrophy, Leber's optic ...
expression has been used to rescue pathogenic variants of Leber’s Hereditary Optic Neuropathy using an adenoviral associated vector containing the MT-ND4 gene (rAAV2/2-ND4) with a mitochondrial targeting ...
% of disease-associated SPAST mutations (Beetz et al., 2006; Depienne et al., 2007). These initial MLPA studies compared clinical characteristics of deletion carriers versus carriers of conventional ‘small ...
-arrangements, however this has now also been described in controls as a population polymorphism (12). In pedigrees with Leber's Hereditary Optic Neuropathy (LHON) (13), additional point mutations have been ...
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