Article
Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.
Brain : a journal of neurology - 1 May 2008
Thomas Shery, Proudlock Frank A, Sarvananthan Nagini, Roberts Eryl O, Awan Musarat, McLean Rebecca, Surendran Mylvaganam, Kumar A S Anil, Farooq Shegufta J, Degg Chris, Gale Richard P, Reinecke Robert D, Woodruff Geoffrey, Langmann Andrea, Lindner Susanne, Jain Sunila, Tarpey Patrick, Raymond F Lucy, Gottlob Irene
Abstract excerpt
Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X-linked. We recently found mutations in a novel gene FRMD7 (Xq26.2), which provided an opportunity to investigate a genetically defined and homogeneous group of patients with nystagmus. We compared clinical features and eye movement recordings of 90 subjects with mutation in the gene (FRMD7...
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