Abstract：
:A 3-year-old boy with congenital nemaline myopathy had generalized muscle weakness and hypotonia since birth. He developed cardiac symptoms at 2 years of age and died from congestive heart failure. At autopsy, the heart was markedly dilated, involving both ventricles. Rod bodies were recognized not only in skeletal muscles but in cardiac muscles on light and electron microscopy. Desmin and alpha-actinin, which constitute Z-line protein, were shown to localize in the rod structures in both skeletal and myocardial cells by immunohistochemistry. Seven cases of nemaline myopathy with cardiomyopathy have been reported in the literature. All of these patients were over 20 years of age, and the condition appeared mostly in the adult onset and the asymptomatic forms. This is the first infantile case of congenital nemaline myopathy which showed dilated cardiomyopathy with a fatal outcome.
journal_name
Hum Patholjournal_title
Human pathologyauthors
Ishibashi-Ueda H,Imakita M,Yutani C,Takahashi S,Yazawa K,Kamiya T,Nonaka Idoi
10.1016/0046-8177(90)90078-jsubject
Has Abstractpub_date
1990-01-01 00:00:00pages
77-82issue
1eissn
0046-8177issn
1532-8392pii
0046-8177(90)90078-Jjournal_volume
21pub_type
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