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Article

A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report.

BMC medical genetics - 25 Aug 2018

Kozina Anastasiya Aleksandrovna, Okuneva Elena Grigorievna, Baryshnikova Natalia Vladimirovna, Krasnenko Anna Yurievna, Tsukanov Kirill Yurievich, Klimchuk Olesya Igorevna, Kondakova Olga Borisovna, Larionova Anna Nikolaevna, Batysheva Tatyana Timofeevna, Surkova Ekaterina Ivanovna, Shatalov Peter Alekseevich, Ilinsky Valery Vladimirovich

Abstract excerpt

BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) are the most common autosomal recessive neurodegenerative disorders in children. Clinical manifestations include progressive cognitive decline, motor impairment, ataxia, visual loss, seizures and early death. To date more than 440 NCL-causing mutations in 13 genes are known. CASE PRESENTATION: We report clinical and genetic characteristics of a 5-year-old girl...

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Source

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Identifiers

PMID: 30144815
DOI: 10.1186/s12881-018-0669-7
PMCID: PMC6109285

Genes

MFSD8
NCL
MECP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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