Congenital muscular dystrophy with eye and brain malformations in six Dutch patients.

@article{Leyten1992CongenitalMD,
  title={Congenital muscular dystrophy with eye and brain malformations in six Dutch patients.},
  author={Q. H. Leyten and Fons J. M. Gabre{\"e}ls and Wil O Renier and Krystyna Renkawek and Henk J ter Laak and Reinier A. Mullaart},
  journal={Neuropediatrics},
  year={1992},
  volume={23 6},
  pages={316-20}
}
From four Dutch families six patients, who have congenital muscular dystrophy, involvement of the central nervous system and of the eyes, or the so-called "muscle, eye and brain disease" (MEB-D), are reported. Two patients are still alive, in four autopsy could be performed. The clinical and morphological data of our patients are compared to those described in recent literature. The progression of the disease was rapid in five of our six patients. Our study supports the idea that within the MEB… CONTINUE READING