Affected gene: NAPEPLD
Inheritance: Autosomal recessive
Mutation: CanFam3.1 18 g.16987520G>C c.538G>C
OMIA link: 001788-9615

Breeds: Leonberger

References:
Minor KM, Letko A, Becker D, Drogemuller M, Mandigers PJJ, Bellekom SR, Leegwater PAJ, Stassen QEM, Purschbach K, Fischer A, Flegel T, Matiasek K, Ekenstedt KJ, Furrow E, Patterson EE, Platt SR, Kelly PA, Cassidy JP, Shelton GD, Lucot K, Bannasch DL, Martineau H, Muir CF, Priestnall SL, Henke D, Oevermann A, Jagannathan V, Mickelson JR, and Drogemuller C. Canine NAPEPLD-associated models of human myelin disorders. Sci Rep. 2018 Apr 11;8(1):5818. doi: 10.1038/s41598-018-23938-7. [PubMed: 29643404]