| Title : Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin-Dorfman disease - Gaeta_2008_Skeletal.Radiol_37_1053 |
| Author(s) : Gaeta M , Minutoli F , Toscano A , Celona A , Musumeci O , Racchiusa S , Mazziotti S |
| Ref : Skeletal Radiol , 37 :1053 , 2008 |
|
Abstract :
Chanarin-Dorfman disease (CDD) is a rare genetic disorder characterized by ichthyosis, myopathy, central nervous system disturbances, and intracellular lipid storage in muscle fibers, hepatocytes, and granulocytes. We describe skeletal muscle magnetic resonance imaging findings in a case of CDD, outlining the potential role of GE T1-weighted opposed-phase sequence (chemical shift imaging) in the evaluation of lipid storage myopathies. |
| PubMedSearch : Gaeta_2008_Skeletal.Radiol_37_1053 |
| PubMedID: 18682927 |
| Gene_locus related to this paper: human-ABHD5 |
| Mutation | IVS4-1G>A_human-ABHD5 |
| Gene_locus | human-ABHD5 |
| Disease | Chanarin-Dorfman syndrome |
Gaeta M, Minutoli F, Toscano A, Celona A, Musumeci O, Racchiusa S, Mazziotti S (2008)
Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin-Dorfman disease
Skeletal Radiol
37 :1053
Gaeta M, Minutoli F, Toscano A, Celona A, Musumeci O, Racchiusa S, Mazziotti S (2008)
Skeletal Radiol
37 :1053