Associated Papers
Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.
Yiş U et al.
Pediatric Neurology, 2014
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.
Jiao H et al.
Molecular Genetics and Genomics : Mgg, 2013
An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement.
Demir E et al.
Neuromuscular Disorders : Nmd, 2009
Select a paper to view details