Clinical and genetic characterization of Chanarin–Dorfman syndrome
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- 作者：Claudio Bruno ; Enrico Bertini ; Maja Di Rocco ; Denise Cass ; rini ; Giuseppe Ruffa ; Teresa De Toni ; Marco Seri ; Marco Spada ; Giovanni Li Volti ; Adele D’ ; Amico ; Federica Trucco ; Marcello Arca ; Carlo
- 关键词：Chanarin– ; Dorfman syndrome ; Neutral lipid storage disease ; Ichthyosis ; Jordans’ ; bodies ; Myopathy
- 刊名：Biochemical and Biophysical Research Communications
- 出版年：2008
- 出版时间：16 May 2008
- 年：2008
- 卷：369
- 期：4
- 页码：1125-1128
- 全文大小：473 K
文摘
We describe the clinical features, muscle pathology features, and molecular studies of seven patients with Chanarin–Dorfman syndrome (CDS) or neutral lipid storage disease and ichthyosis (NLSDI), a multisystem triglyceride storage disease with massive accumulation of lipid droplets in muscle fibers.