6533b86efe1ef96bd12cc034

RESEARCH PRODUCT

Aberrant arrested in maturation neuromuscular junctions in centronuclear myopathy

A. FiziańskaHans-hilmar Goebel

subject

MaleCell Adhesion Molecules NeuronalCellNeuromuscular JunctionElectromyographyBiologyMicrotubulesMotor EndplateNeuromuscular junctionMotor EndplateMicrotubulemedicineHumansCentronuclear myopathyMotor NeuronsFetusTissue Embeddingmedicine.diagnostic_testElectromyographyMyogenesisMusclesInfantNeuromuscular Diseasesmedicine.diseaseCell biologyMicroscopy Electronmedicine.anatomical_structureNeurologySynapsesNeurology (clinical)Neuroscience

description

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.

yearjournalcountryeditionlanguage
1994-06-01Journal of the Neurological Sciences
https://doi.org/10.1016/0022-510x(94)90015-9