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Nevi are due to primary abnormalities in the structure or number of skin cells.
Cardiorespiratory complications are frequent symptoms of Duchenne muscular dystrophy, a neuromuscular disorder caused by primary abnormalities in the dystrophin gene.
Primary abnormalities in the Dmd gene result in the absence of the full-length isoform of the membrane cytoskeletal protein dystrophin.
Furthermore, primary abnormalities in ocular perfusion worsen with age, secondarily causing dysfunction of the retinal pigment epithelial cells, predisposing eyes to AMD.
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© 2011 Wiley-Liss, Inc. Ocular hypertelorism (hereafter referred to as hypertelorism), meaning abnormally widely spaced eyes, may manifest in isolation (MIM♯ 145400), as the primary abnormality in brachycephalofrontonasal dysplasia (Teebi hypertelorism) (MIM♯ 145420), or in association with several syndromes.
Taken together, studies in patients and in Scn5a+/− mice strongly suggest that a primary abnormality in Nav1.5 channel may lead to cellular damage.
Besides hypovolemia and hypoalbuminemia, a primary abnormality in intrarenal sodium handling is also implicated in the nephrotic syndrome [ 77, 78].
Their characterization of two existing mouse models of MTM revealed signs consistent with an NMJ disorder, with pathological changes indicating a primary abnormality in the NMJ.
Abnormalities in this degradation-synthesis equilibrium are not only implicated in the pathophysiology of pelvic floor defects but may also put any repair at risk of failure as the underlying primary abnormality in collagen turnover persists.
Indeed, enthesitis is thought to be the primary abnormality in PsA by many researchers, with synovitis being a secondary phenomenon, in contrast to RA where the synovitis takes primacy.
Following the report of McGonagle and colleagues [ 14] that suggested that the primary abnormality in PsA was entheseal, this group examined six PsA patients with 11 dactylitic fingers for the presence of enthesitis [ 22].
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