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Only with the most severe genotypes would the rapidly renewed rods accumulate enough A2E to cause primary (i.e. not secondary to RPE loss) rod photoreceptor death.
The most severe genotypes cause a sufficient accumulation of bisretinoid in the rods that they also succumb, giving rise to a clinical and electrophysiological phenotype similar to typical retinitis Pigmentosa (2).
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The patient with the most severe genotype exhibits widespread loss of both cone and rod photoreceptors in addition to significant injury to the RPE.
A wild-type phenotype was given a score of 0. Thus, if all the animals of a particular genotype displayed the most severe phenotype (+3), the index would be +3.
We tried to compare the genotype of the most severe case (Patient 4) in the present study to those severe NICCD cases published in the literature.
The second genotype, H L44,H R388, mimics the most severe form of spastin-mediated AD-HSP in humans (Svenson et al., 2004).
This genotype is related to genotypes that harbor the QpH1 plasmid, which causes the most severe clinical forms of acute Q fever in experimental animal models (11, 12 ).
This is the most severe presentation of the disease and can be predicted by genotype "null" and "I2splice" [ 3].
To determine whether disease outcomes and clades of Leishmania braziliensis genotypes are associated, we studied geographic clustering of clades and most severe disease outcomes for leishmaniasis during 1999 2003 in Corte de Pedra in northeastern Brazil.
The most severe clinical courses were observed in SE Europe, where human infections by the Dobrava genotype occur.
Traffic courts are most severe.
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