Co‐existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy

A sporadic case of congenital myopathy had severe muscle weakness of neonatal onset. Nemaline and cytoplasmic bodies were detected in muscle biopsies taken at 4 months of age. These findings were consistent with a diagnosis of nemaline myopathy (severe neonatal form). The simultaneous and abundant p...

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Veröffentlicht in:Neuropathology 2002-12, Vol.22 (4), p.294-298
Hauptverfasser: Suwa, Kiyotaka, Mizuguchi, Masashi, Momoi, Mariko Y., Nakamura, Minako, Arima, Kunimasa, Komaki, Hirofumi, Nonaka, Ikuya
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Sprache:eng
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Zusammenfassung:A sporadic case of congenital myopathy had severe muscle weakness of neonatal onset. Nemaline and cytoplasmic bodies were detected in muscle biopsies taken at 4 months of age. These findings were consistent with a diagnosis of nemaline myopathy (severe neonatal form). The simultaneous and abundant presence of these two types of sarcoplasmic inclusion has been found in only a few cases. However, these cases suggest that the sarcoplasmic inclusions may be formed, at least partially, by common mechanisms.
ISSN:0919-6544
1440-1789
DOI:10.1046/j.1440-1789.2002.00461.x