title: [Unusual phenotype of myopathy associated with a new PNPLA2 mutation].
authors.affiliation: Service d'explorations fonctionnelles neurologiques, Hospices Civils de Lyon, Hôpital de la Croix-Rousse, Centre de Référence Maladies Neuromusculaires Rares Rhône Alpes, FILNEMUS.
authors.forename: Guillemette
authors.initials: G
authors.lastname: Jousserand
authors.affiliation: Service d'explorations fonctionnelles neurologiques, Hospices Civils de Lyon, Hôpital de la Croix-Rousse, Centre de Référence Maladies Neuromusculaires Rares Rhône Alpes, FILNEMUS.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Streichenberger
authors.affiliation: Service d'explorations fonctionnelles neurologiques, Hospices Civils de Lyon, Hôpital de la Croix-Rousse, Centre de Référence Maladies Neuromusculaires Rares Rhône Alpes, FILNEMUS.
authors.forename: Philippe
authors.initials: P
authors.lastname: Petiot
mesh_terms: D001706:Biopsy; D009202:Cardiomyopathies / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D008049:Lipase / Q000235:genetics*; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics*; D008055:Lipids / Q000032:analysis; D008297:Male; D008875:Middle Aged; D032342:Muscle Cells / Q000737:chemistry; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D000217:Acyltransferases
chemical_list: D008049:Lipase; D008055:Lipids; C494794:PNPLA2 protein, human; D000217:Acyltransferases