Aberrant arrested in maturation neuromuscular junctions in centronuclear myopathy.
Unusual ultrastructural changes of the nerve terminals have been found in an infant born with severe, fatal XLR form of centronuclear myopathy. Aberrant neuromuscular junctions in myotubes decorated by N-CAM were observed. The junction changes were manifested by simplification of postsynaptic membrane and paucity of secondary synaptic clefts. These resembles fetal neuromuscular junctions. The findings suggest that the expression of N-CAM by arrested myotubes may be promoted by abnormal nerve-muscle cell interactions, induced by motor endplate immaturity.
Fidziańska
A
A
Department of Neurology, Medical School, Polish Academy of Science, Warsaw.
Goebel
H H
HH
D015816:Cell Adhesion Molecules, Neuronal / Q000096:biosynthesis; D004576:Electromyography; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D008870:Microtubules / Q000648:ultrastructure; D009045:Motor Endplate / Q000648:ultrastructure; D009046:Motor Neurons / Q000502:physiology; D009132:Muscles / Q000473:pathology / Q000503:physiopathology / Q000648:ultrastructure; D009468:Neuromuscular Diseases / Q000473:pathology* / Q000503:physiopathology; D009469:Neuromuscular Junction / Q000502:physiology / Q000648:ultrastructure*; D013569:Synapses / Q000648:ultrastructure; D016610:Tissue Embedding
D015816:Cell Adhesion Molecules, Neuronal