Lipid raft disease? A new severe congenital myopathy.
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.
Kajor
Maciej
M
Department of Pathomorphology, Medical University of Silesia, Medyków 18, 40-574 Katowice, Poland. maciej_kajor@poczta.onet.pl
Wojaczyńska-Stanek
Katarzyna
K
Marszał
Elzbieta
E
Grzybowska-Chlebowczyk
Urszula
U
Fidziańska
Anna
A
D001706:Biopsy; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007231:Infant, Newborn; D021962:Membrane Microdomains / Q000378:metabolism / Q000648:ultrastructure*; D018482:Muscle, Skeletal / Q000378:metabolism / Q000648:ultrastructure*; D009468:Neuromuscular Diseases / Q000151:congenital* / Q000473:pathology*; D012508:Sarcolemma / Q000378:metabolism / Q000648:ultrastructure*