Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion

A novel CLN8 mutation in late-infantile-

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function

✍ Chiara Vantaggiato; Francesca Redaelli; Sestina Falcone; Cristiana Perrotta; Ale 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 718 KB

The late-infantile-onset forms of neuronal ceroid lipofuscinosis (LINCL) are the most genetically heterogeneous group among the autosomal recessive neuronal ceroid lipofuscinoses (NCLs), with causative mutations found in CLN1, CLN2, CLN5, CLN6, CLN7 (MFSD8), and CLN8 genes. Homozygous mutations in C