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Article

CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.

Indian journal of pediatrics - 1 Aug 2013

Bouhouche Ahmed, Regragui Wafae, El Fahime Elmostafa, Bouslam Naima, Tazi-Ahnini Rachid, Melloul Marouane, Benomar Ali, Yahyaoui Mohamed

Abstract excerpt

The neuronal ceroid-lipofuscinosis (NCL) are a heterogeneous group of neurodegenerative diseases characterized by the lysosomal accumulation of ceroid and lipofuscin with mitochondrial ATP synthase subunit C in various tissues. Clinical features include progressive mental and motor deterioration, myoclonus, seizure, visual failure and premature death. Ten CLN genes have been identified, among them CLN6 genes for...

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Source

Identifiers

PMID: 23180398
DOI: 10.1007/s12098-012-0889-3

Genes

CLN6
NCL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.PMID 23180398Read ↗

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