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BIBTEX RIS

Fatal neonatal nemaline myopathy: a case report.

1983; BMJ; Volume: 46; Issue: 9 Linguagem: Inglês

10.1136/jnnp.46.9.856

ISSN

1468-330X

Autores

Mitsuhiro Tsujihata, C Shimomura, T Yoshimura, Akiko Satô, Toru Ogawa, Yusuke Tsuji, Shigenobu Nagataki, Takeshi Matsuo,

Tópico(s)

Muscle and Compartmental Disorders

Resumo

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.

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