title: [Chanarin-Dorfman syndrome in a 7-year-old child: when myophathy and skin involvement are all but one].
authors.affiliation: Service de neuropédiatrie et Centre de Référence des maladies neuromusculaires Garches-Necker-Mondor-Hendaye, site Necker, AP-HP  
authors.forename: Christine
authors.initials: C
authors.lastname: Barnérias
authors.affiliation: Laboratoire d'anatomopathologie et Centre de Référence des maladies neuromusculaires Garches-Necker-Mondor-Hendaye, site Mondor, AP-HP  
authors.forename: Guillaume
authors.initials: G
authors.lastname: Bassez
authors.affiliation: UF de génétique et oncogénétique moléculaires, Hôpital Avicenne, AP-HP  
authors.forename: Olivier
authors.initials: O
authors.lastname: Schischmanoff
mesh_terms: D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase / Q000235:genetics; D001706:Biopsy; D002648:Child; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000235:genetics / Q000473:pathology; D016113:Ichthyosiform Erythroderma, Congenital / Q000175:diagnosis / Q000473:pathology*; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000473:pathology*; D008055:Lipids / Q000032:analysis; D018482:Muscle, Skeletal / Q000737:chemistry / Q000473:pathology*; D009135:Muscular Diseases / Q000175:diagnosis / Q000473:pathology*; D016254:Mutagenesis, Insertional; D012867:Skin / Q000473:pathology*; D013194:Staining and Labeling
chemical_list: D008055:Lipids; D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human