Centronuclear myopathy with special consideration of the adult form.
We report clinical, electrophysiological, enzyme histochemical and ultrastructural findings in 4 patients afflicted with centronuclear myopathy of adulthood whose disorder emphasizes the broad spectrum of this congenital myopathy including clear ocular ptosis in only one and facio-scapulo-peroneal syndrome in another patient. The morphological criteria for classification are central nuclei and the enzyme histochemical findings in muscle biopsies which did not show any significant progression over many years, more severe involvement of distal muscles in 2 patients and conspicuous presence of intrafascicular fat cells. 1 patient had associated minicores in a familial setting. Although electromyographic data comprised a mixed myopathic-neurogenic pattern, the morphological features in muscle biopsies did not further prove a neurogenic origin of our patients' neuromuscular disorder.
D000328:Adult; D001706:Biopsy; D003599:Cytoskeleton / Q000648:ultrastructure; D004576:Electromyography; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009046:Motor Neurons / Q000502:physiology; D009132:Muscles / Q000294:innervation / Q000473:pathology; D009133:Muscular Atrophy / Q000503:physiopathology; D009431:Neural Conduction; D009468:Neuromuscular Diseases / Q000151:congenital* / Q000473:pathology / Q000503:physiopathology; D010543:Peroneal Nerve / Q000503:physiopathology; D012026:Reflex, Stretch; D013497:Sural Nerve / Q000473:pathology