Lipid raft disease? A new severe congenital myopathy.
نویسندگان
چکیده
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.
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ورودعنوان ژورنال:
- Folia neuropathologica
دوره 45 4 شماره
صفحات -
تاریخ انتشار 2007