Congenital Myopathies in Israeli Families
@article{Weiss2007CongenitalMI,
title={Congenital Myopathies in Israeli Families},
author={Karin Weiss and Yehuda Shapira and Benjamin S. Glick and Tally Lerman-Sagie and Eli Shahar and Helly R Goez and Miriam Kutai and Yoram Nevo},
journal={Journal of Child Neurology},
year={2007},
volume={22},
pages={732 - 736}
}The clinical features of 37 patients from 32 Israeli families with congenital myopathies evaluated between 1983 and 2004 are described: 13 children were diagnosed with congenital fiber type disproportion, 10 had myotubular myopathy, 7 had nemaline myopathy, 5 had central core disease, 1 had actin myopathy, and 1 had multi-minicore disease. There were 7 families (22%) that had parental consanguinity, and 4 families (12%) had more than 1 patient with congenital myopathy. Of the patients, 31 (84…
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