Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3085032 | Pediatric Neurology | 2013 | 5 Pages |
Abstract
Patients with fukutin-related protein gene mutation tend to have no or mild eye involvement (generally strabismus), with very few cases reported of moderate to severe eye involvement. Our patient with a novel mutation c.558dupC(p.Ala187fs) represents one of the most severe phenotypes described in regard to eye involvement.
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Authors
Maina MD, David MD, Susan MD, Peter N. PhD, Jiri MD,