Abstract
4/2007
vol. 45
Lipid raft disease? A new severe congenital myopathy
Folia Neuropathol 2007; 45 (4): 242-246
Online publish date: 2007/12/21
We report a 5-year-old girl with a unique neuromuscular disorder manifested by early onset of the disease, delayed motor development, joint contractures, dysmorphy, cobbler’s chest, generalized muscle hypoplasia and weakness. Morphological examination revealed muscle cell immaturity and the appearance of multilamellar myelin-like structures within and outside the sarcolemma. Overexpression of aberrant lipids on the surface of affected muscle cells may suggest some failure in lipid raft formation.
Keywords
congenital myopathy, lamellar bodies, lipid raft remodelling
Integrated with
