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Centronuclear Myopathy: A Light and Electron Microscopic Study and a Review of the Literature
Author(s) -
Shirabe Teruo,
Matsumura Shigeichi,
Terao Akira,
Araki Shukuro
Publication year - 1973
Publication title -
psychiatry and clinical neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.609
H-Index - 74
eISSN - 1440-1819
pISSN - 1323-1316
DOI - 10.1111/j.1440-1819.1973.tb00089.x
Subject(s) - muscle biopsy , myopathy , pathology , myofibril , biopsy , glycogen , weakness , muscle disease , mitochondrial myopathy , anatomy , medicine , disease , biology , mitochondrial dna , biochemistry , gene
Summary The clinical and histological features of a nine‐year‐old Japanese boy with a centro‐nuclear myopathy was described, who had been suffering from non‐progressive ble‐pharoptosis and generalized muscular weakness since the first months of life. The muscle biopsy of the patient showed a moderate variation in the diameter and a presence of numerous central nuclei frequently with a surrounding clear zone in 66.8% of the muscle fibers. Electron microscopically the changes of the myofibrils were minimal. There were aggregates of glycogen granules and mitochondria in a clear zone around the central nuclei. A review of the 31 total cases showed a lack of uniformity in the age of onset, genetics and clinical features, despite of the histological resemblance as the existence of central nuclei in a large proportion of muscle fibers. The question of whether more than one disease entity is included was raised.