Centronuclear myopathy: possible central nervous system origin.
The authors describe a case of myopathy characterized physically by limb weakness, eyelid ptosis, voluntary and reflex paralysis of vertical movements of gaze, and loss of deep tendon reflexes; and morphologically by the abnormal presence of centrally located nuclei in muscle fibers and type 1 fiber hypotrophy. The establishment in this case study of two particular findings--the probably nuclear or supranuclear ophthalmoplegia and the apparently impaired nuclear migration from the center of the muscle fiber toward its periphery--supports the hypothesis of a neuromuscular disorder whose level of severity depends on the degree of difficulty in the nuclear migration itself. This would be linked to a reduction in central nervous system influence.
D000293:Adolescent; D000367:Age Factors; D002467:Cell Nucleus / Q000473:pathology* / Q000648:ultrastructure; D002493:Central Nervous System Diseases / Q000150:complications; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009123:Muscle Hypotonia / Q000503:physiopathology; D009132:Muscles / Q000648:ultrastructure; D009135:Muscular Diseases / Q000209:etiology / Q000473:pathology* / Q000503:physiopathology