Lipid raft disease? A new severe congenital myopathy

Maciej Kajor; Katarzyna Wojaczyńska-Stanek; Elżbieta Marszał; Urszula Grzybowska-Chlebowczyk; Anna Fidziańska

eISSN: 1509-572x
ISSN: 1641-4640

Folia Neuropathologica

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4/2007
vol. 45

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abstract:

Lipid raft disease? A new severe congenital myopathy

Maciej Kajor

,

Katarzyna Wojaczyńska-Stanek

,

Elżbieta Marszał

,

Urszula Grzybowska-Chlebowczyk

,

Anna Fidziańska

Folia Neuropathol 2007; 45 (4): 242-246

Online publish date: 2007/12/21

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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:

Lipid raft disease? A new severe congenital myopathy

Maciej Kajor , Katarzyna Wojaczyńska-Stanek , Elżbieta Marszał , Urszula Grzybowska-Chlebowczyk , Anna Fidziańska

congenital myopathy, lamellar bodies, lipid raft remodelling

Maciej Kajor

,

Katarzyna Wojaczyńska-Stanek

,

Elżbieta Marszał

,

Urszula Grzybowska-Chlebowczyk

,

Anna Fidziańska