Neuronal Ceroid Lipofuscinosis 12
Body function: Muscle & Neurological
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Neuronal ceroid lipofuscinosis 12 (NCL 12), also known as adult-onset neuronal ceroid lipofuscinosis, is a serious genetic condition found in Tibetan Terriers. It is caused by a mutation in the ATP13A2 gene. This mutation involves a small deletion in the gene, which leads to the production of a non-functional protein. The disorder typically appears between the ages of 4 and 7 and leads to progressive neurological and behavioral problems.
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