Article ID Journal Published Year Pages File Type
3085032 Pediatric Neurology 2013 5 Pages PDF
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.
Related Topics
Life Sciences Neuroscience Developmental Neuroscience
Authors
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