The detail information of Lysosomal storage disease, CNP-related
OMIA Basic Information

Possible human homologues (MIM numbers): -

Mendelian trait/disorder: -

Mode of inheritance: -

Considered a defect: -

Year key mutation first reported: -

Species-specific name: -

Species-specific symbol: -

More detail information can see in

Associated Breeds
There are associated breeds.
Associated Gene
There are no associated genes.
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2024 Keller, S.H., Johnson, G.S., Bullock, G., Mhlanga-Mutangadura, T., Schwartz, M., Pattridge, S.G., Guo, J., Kortz, G.D., Katz, M.L. :
Homozygous CNP mutation and neurodegeneration in Weimaraners: Myelin abnormalities and accumulation of lipofuscin-like inclusions Genes (Basel) 15:246,2024
Pubmed reference: 38397235 . DOI: 10.3390/genes15020246 .
2022 Bullock, G., Johnson, G.S., Mhlanga-Mutangadura, T., Petesch, S.C., Thompson, S., Goebbels, S., Katz, M.L. :
Lysosomal storage disease associated with a CNP sequence variant in Dalmatian dogs Gene 830:146513,2022
Pubmed reference: 35447247 . DOI: 10.1016/j.gene.2022.146513 .