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Article

Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2001

Mitchell W A, Wheeler R B, Sharp J D, Bate S L, Gardiner R M, Ranta U S, Lonka L, Williams R E, Lehesjoki A E, Mole S E

Abstract excerpt

One variant form of late infantile neuronal ceroid lipofuscinosis (LINCL) is found predominantly within the Turkish population (CLN7). Exclusion mapping showed that CLN7 was not an allelic variant of known NCL loci (CLN1, CLN2, CLN3, CLN5 or CLN6). Using the method of homozygosity mapping, a genome-wide search was undertaken and a total of 358 microsatellite markers were typed at an average distance of about 10...

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Source

Identifiers

PMID: 11589000
DOI: 10.1053/ejpn.2000.0429

Genes

CLN8
NCL
CLN3
CLN5
CLN6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.PMID 11589000Read ↗

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.Semantic proximity Read ↗

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

A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7.Semantic proximity Read ↗

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A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

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Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

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