A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis

Abstract excerpt

BACKGROUND: The neuronal ceroid lipofuscinoses are heritable lysosomal storage diseases characterized by progressive neurological impairment and the accumulation of autofluorescent storage granules in neurons and other cell types. Various forms of human neuronal ceroid lipofuscinosis have been attributed to mutations in at least 13 different genes. So far, mutations in the canine orthologs of 7 of these genes...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Glycogen Storage Diseases and Myoclonus
• Share to Lysosomal Storage Disorders Research
• Share to T-cell and Retrovirus Studies