Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3084994 | Pediatric Neurology | 2014 | 7 Pages |
Abstract
We suggest that muscle-eye-brain disease is a relatively common muscular dystrophy in Turkey. It should be suspected in patients with muscular hypotonia, increased creatine kinase, and structural eye and brain abnormalities. The c.1814 G > A mutation in exon 21 of the POMGNT1 gene is apparently a common mutation in the Turkish population. Individuals with this mutation show classical features of muscle-eye-brain disease, but others may exhibit a milder phenotype and retain the ability to walk independently. Congenital muscular dystrophy patients from Turkey carrying the clinical and radiologic features of muscle-eye-brain disease should be evaluated for mutations in POMGNT1 gene.
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Authors
Uluç MD, Gökhan MD, Deborah Morris PhD, KürÅat Bora MD, Erhan MD, Marisol PhD, Gamze PhD, Semra Hız MD,