Muscle histochemistry in myotubular (centronuclear) myopathy.
We report the clinical and histochemical findings in 7 patients with myotubular (centronuclear) myopathy aged from 2 months to 32 years. The clinical symptoms varied from patient to patient. Three patients developed severe muscle weakness and hypotonia with respiratory distress from infancy, and 4 had muscle weakness from 2-5 years of age with no apparent delay in developmental milestones. In addition to an increased number of fibers with centrally placed nuclei, there were 3 other histochemical characteristics of this disorder, i.e., type 1 fiber predominance, type 1 fiber hypotrophy and type 2B fiber deficiency. Other histological findings included a peripheral halo in the sarcoplasm on NADH-TR staining and an increased number of undifferentiated type 2C fibers, indicating a delay in muscle fiber growth and differentiation due to a probable defective neural supply in the developing muscles.
Sasaki
T
T
Division of Ultrastructural Research, National Institute of Neuroscience, Tokyo, Japan.
Shikura
K
K
Sugai
K
K
Nonaka
I
I
Kumagai
K
K
D000328:Adult; D001706:Biopsy; D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009123:Muscle Hypotonia / Q000378:metabolism; D009132:Muscles / Q000378:metabolism* / Q000473:pathology; D009135:Muscular Diseases / Q000378:metabolism* / Q000473:pathology; D012131:Respiratory Insufficiency / Q000209:etiology; D013194:Staining and Labeling