Lunati-Rozie A

References (1)

Title : Case Report: a novel PNPLA2 homozygous frameshift variant causing severe neutral lipid storage disease with myopathy (NLSDM) in a Moroccan patient - Faedo_2026_Front.Genet_17_1701218

Author(s) : Faedo E , Araujo Chumacero MM , Missaglia S , Lunati-Rozie A , Severa G , Onnee M , Das B , Martegani E , Lafage N , El Bejjani L , Barka I , Gobin-Limballe S , Badaoui B , Lefaucheur JP , Tavian D , Malfatti E

Ref : Front Genet , 17 :1701218 , 2026

Abstract :

PubMedSearch : Faedo_2026_Front.Genet_17_1701218

PubMedID: 42266408

Lunati-Rozie A

References (1)

1. Case Report: a novel PNPLA2 homozygous frameshift variant causing severe neutral lipid storage disease with myopathy (NLSDM) in a Moroccan patient - Faedo_2026_Front.Genet_17_1701218