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Article

PNPLA2 mutation: a paediatric case with early onset but indolent course.

Neuromuscular disorders : NMD - 1 Dec 2013

Perrin Laurine, Féasson Léonard, Furby Alain, Laforêt Pascal, Petit François M, Gautheron Vincent, Chabrier Stéphane

Abstract excerpt

Neutral lipid storage disease (NLSD) due to PNPLA2 mutation is a rare disorder with a severe muscular and cardiac outcome. All but one reported cases have been diagnosed during adulthood. It is thus ordinarily distinguished from Chanarin-Dorfman syndrome, a paediatric NLSD with a more widespread symptomatology. We report the case of a young child incidentally diagnosed with significant and persistent hyperCKemia....

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Source

Identifiers

PMID: 24074500
DOI: 10.1016/j.nmd.2013.08.008

Genes

PNPLA2

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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