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Research Article
Fatal neonatal nemaline myopathy: a case report.
  1. M Tsujihata,
  2. C Shimomura,
  3. T Yoshimura,
  4. A Sato,
  5. T Ogawa,
  6. Y Tsuji,
  7. S Nagataki,
  8. T Matsuo

    Abstract

    A fatal neonatal nemaline myopathy in a Japanese girl was described. The patient was hypotonic at birth and failed to establish effective respiration. Rod-like structures were observed within a variety of skeletal muscles, particularly in the diaphragm. This is the first case of fatal neonatal nemaline myopathy in which many satellite cells were observed.

    https://doi.org/10.1136/jnnp.46.9.856

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