Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy.

@article{Funakoshi1998EpilepsyAM,
  title={Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy.},
  author={Mahito Funakoshi and Kanako Goto and Kiichi Arahata},
  journal={Neurology},
  year={1998},
  volume={50 6},
  pages={1791-4}
}
The gene for facioscapulohumeral muscular dystrophy (FSHD) has been mapped to chromosome 4q35. In most patients with FSHD, a deletion of 3.3 kb tandemly repeated units within the EcoRI fragment that can be detected by probe p13E-11 is associated with the disease. To elucidate the relation between the phenotype and the genotype in FSHD, we examined 91 Japanese unrelated families with a clinical diagnosis of FSHD (140 patients, 205 healthy individuals). Of these, 78 families (86%) had 4q35-FSHD… CONTINUE READING
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