A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis
T Awano, ML Katz, DP O'Brien, I Sohar, P Lobel… - Molecular Genetics and …, 2006 - Elsevier
The neuronal ceroid lipofuscinoses (NCLs) are inherited lysosomal storage diseases
characterized by progressive neuropathy and the accumulation of autofluorescent
cytoplasmic granules. Clinical signs of a new canine NCL began in a 9-month-old male
Dachshund with vomiting, mental dullness, and loss of previously learned commands and
rapidly progressed to include disorientation, ataxia, visual deficits, generalized myoclonic
seizures, and death at 12 months of age. Neurons throughout the CNS contained …
characterized by progressive neuropathy and the accumulation of autofluorescent
cytoplasmic granules. Clinical signs of a new canine NCL began in a 9-month-old male
Dachshund with vomiting, mental dullness, and loss of previously learned commands and
rapidly progressed to include disorientation, ataxia, visual deficits, generalized myoclonic
seizures, and death at 12 months of age. Neurons throughout the CNS contained …
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