Article
Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations.
Pediatric neurology - 1 Nov 2013
Kava Maina, Chitayat David, Blaser Susan, Ray Peter N, Vajsar Jiri
Abstract excerpt
BACKGROUND: Mutations in the fukutin-related protein gene account for a broad spectrum of phenotypes ranging from severe congenital muscular dystrophies to a much milder limb-girdle muscular dystrophy 2I. The involvement of the eyes is variable, with most patients having normal eye examination. OBJECTIVES: We describe eye and brain abnormalities in a 16 month-old-boy with Walker-Warburg syndrome phenotype...
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