Choroideremia is an X-linked, progressive photoreceptor degeneration disorder due to mutations in CHM. In addition to an atrophy of the outer retina, affected individuals present with a characteristic atrophy of the choroid. To search for a canine model, we screened the CHM gene of 37 dogs (22 breeds) with various forms of retinal dystrophies.
View Article and Find Full Text PDFObjectives: We described epidemiological, clinical, histopathological and ultrastructural features of ichthyosis in the golden retriever breed in a prospective study. We also investigated the mode of transmission of this disease.
Materials And Methods: We examined 150 golden retrievers, 73 of which were affected by ichthyosis (35 males and 38 females).
The resting transmembrane potential of skeletal muscle (E(m)) is thought to be a function of the ratio of intracellular to extracellular potassium concentration ([K(i)]/[K(o)]). In potassium deficiency, the fall of [K(i)] is proportionately less than the fall of [K(o)], thus theoretically predicting a rise of E(m). To examine this theory and to characterize E(m) in kaliopenic myopathy, muscle composition and E(m) were measured during moderate (n = 5) and severe (n = 11) K deficiency in the dog and compared with measurements in the severely K-deficient rat (n = 10).
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