X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7.

@article{Shiels2007XlinkedII,
  title={X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7.},
  author={Alan Shiels and Thomas M Bennett and Jessica B Prince and M. D. Lawrence Tychsen},
  journal={Molecular vision},
  year={2007},
  volume={13},
  pages={
          2233-41
        }
}
PURPOSE Infantile nystagmus is a clinically and genetically heterogeneous eye movement disorder. Here we map and identify the genetic mutation underlying X-linked idiopathic infantile nystagmus (XL-IIN) segregating in two Caucasian-American families. METHODS Eye movements were recorded using binocular infrared digital video-oculography. Genomic DNA was prepared from blood or buccal-cells, and linkage analysis was performed using short tandem repeat (STR) and single nucleotide polymorphism… CONTINUE READING

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