A Homozygous <i>MAN2B1</i> Missense Mutation in a Doberman Pinscher Dog with Neurodegeneration, Cytoplasmic Vacuoles, Autofluorescent Storage Granules, and an α-Mannosidase Deficiency

A Homozygous <i>MAN2B1</i> Missense Mutation in a Doberman Pinscher Dog with Neurodegeneration, Cytoplasmic Vacuoles, Autofluorescent Storage Granules, and an α-Mannosidase Deficiency

A 7-month-old Doberman Pinscher dog presented with progressive neurological signs and brain atrophy suggestive of a hereditary neurodegenerative disorder. The dog was euthanized due to the progression of disease signs. Microscopic examination of tissues collected at the time of euthanasia revealed m...

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Bibliographic Details
Main Authors: Garrett Bullock, Gary S. Johnson, Savannah G. Pattridge, Tendai Mhlanga-Mutangadura, Juyuan Guo, James Cook, Rebecca S. Campbell, Charles H. Vite, Martin L. Katz
Format: Article
Language:English
Published: MDPI AG 2023-08-01
Series:Genes
Subjects:
lysosomal storage disease
neurodegeneration
brain
neuronal ceroid lipofuscinosis
Online Access:https://www.mdpi.com/2073-4425/14/9/1746

Internet

https://www.mdpi.com/2073-4425/14/9/1746

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