[Chanarin-Dorfman syndrome in a 7-year-old child: when myophathy and skin involvement are all but one]

MeSH terms

• 1-Acylglycerol-3-Phosphate O-Acyltransferase / genetics
• Biopsy
• Child
• Exons / genetics
• Female
• Humans
• Hypertrophy, Left Ventricular / genetics
• Hypertrophy, Left Ventricular / pathology
• Ichthyosiform Erythroderma, Congenital / diagnosis
• Ichthyosiform Erythroderma, Congenital / pathology*
• Lipid Metabolism, Inborn Errors / diagnosis
• Lipid Metabolism, Inborn Errors / pathology*
• Lipids / analysis
• Muscle, Skeletal / chemistry
• Muscle, Skeletal / pathology*
• Muscular Diseases / diagnosis
• Muscular Diseases / pathology*
• Mutagenesis, Insertional
• Skin / pathology*
• Staining and Labeling