PMID 26443629 2016 Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.
PMID 19807737 2010 Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
PMID 19431184 2009 A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.
PMID 15024724 2004 Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.
PMID 19201763 2009 Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
PMID 16570191 2006 Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.
rs386834124 in
CLN8 gene and
Dysmorphic features
PMID 25891276 2015 Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
PMID 27844444 2017 Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.
PMID 26657971 2015 Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.
rs386834124 in
CLN8 gene and
Movement Disorders
PMID 25891276 2015 Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
PMID 27844444 2017 Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.
PMID 26657971 2015 Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.
rs386834124 in
CLN8 gene and
Muscle hypotonia
PMID 27844444 2017 Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.
PMID 26657971 2015 Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population.
PMID 25891276 2015 Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.