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Article

An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family.

BMC neurology - 22 Aug 2016

Cervera-Gaviria Marivi, Alcántara-Ortigoza Miguel Angel, González-Del Angel Ariadna, Moyers-Pérez Paola, Legorreta-Ramírez Blanca Gabriela Lizet, Barrera-Carmona Nancy, Cervera-Gaviria Jaime

Abstract excerpt

BACKGROUND: Niemann-Pick disease type C (NP-C) is a fatal lysosomal neurodegenerative and neurovisceral disease. It is caused by defects in intracellular lipid trafficking, which lead to the accumulation of lipids and glycosphingolipids within the endosomes and lysosomes of affected individuals. Pathogenic variants of the NPC1 or NPC2 genes yield highly variable phenotypes with a time course that ranges from...

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Identifiers

PMID: 27549128
DOI: 10.1186/s12883-016-0649-5
PMCID: PMC4994172

Genes

NPC1
NPC2

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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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