title: [Acute rhabdomyolysis in a female heterozygotic carrier of an undescribed mutation in the PNPLA2 gene].
authors.affiliation: Hospital Universitario de Getafe, 28905 Getafe, Espana.
authors.forename: Ana
authors.initials: A
authors.lastname: Pinel
authors.forename: Aurelio
authors.initials: A
authors.lastname: Hernández-Laín
authors.forename: Belén
authors.initials: B
authors.lastname: Gil-Fournier
authors.forename: Soraya
authors.initials: S
authors.lastname: Ramiro-León
mesh_terms: D000208:Acute Disease; D000328:Adult; D019943:Amino Acid Substitution; D050528:Diet, Carbohydrate-Restricted / Q000009:adverse effects; D004038:Diet, Reducing / Q000009:adverse effects; D015444:Exercise; D005091:Exons / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D008049:Lipase / Q000235:genetics*; D008055:Lipids / Q000032:analysis; D018482:Muscle, Skeletal / Q000473:pathology; D020125:Mutation, Missense; D017354:Point Mutation; D012008:Recurrence; D012206:Rhabdomyolysis / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D014617:Vacuoles / Q000648:ultrastructure; D000217:Acyltransferases
chemical_list: D008049:Lipase; D008055:Lipids; C494794:PNPLA2 protein, human; D000217:Acyltransferases