Title: | A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles |
Journal : | Clinical neuropathology, 29, 6 |
Authors: | Chen J ; Hong D ; Wang Z ; Yuan Y |
Material Type: | Article |
Publication Date: | 2010 |
Size: | p. 351-356 |
Languages: | English |
Keywords : | body height ; case studies ; dilated cardiomyopathy ; family trees ; genetic mutations ; hearing loss ; heterozygotes ; histopathology ; muscle weakness ; neutral lipid storage disorder with myopathy ; PNPLA2 gene ; rimmed vacuoles ; siblings ; skeletal muscle ; triglyceride lipase |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/pubmed/21073837 |