Associated Papers
Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan using next-generation sequencing technology.
Lim BC et al.
Neuromuscular Disorders : Nmd, 2013
Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.
Voglmeir J et al.
The Biochemical Journal, 2011
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
Hehr U et al.
Neurogenetics, 2007
[Muscle-eye-brain disease. Presentation of one case with genetic study].
Pascual-Castroviejo I et al.
Neurologia (barcelona, Spain), 2005
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
Diesen C et al.
Journal of Medical Genetics, 2004
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