Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

Mercuri, E

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. [electronic resource] - Neurology May 2009 - 1802-9 p. digital

Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't

1526-632X

10.1212/01.wnl.0000346518.68110.60 doi


Adolescent
Brain--pathology
Child
Child, Preschool
Cohort Studies
Dystroglycans--analysis
Female
Glycosylation
Glycosyltransferases--genetics
Humans
Infant
Italy
Magnetic Resonance Imaging
Mannosyltransferases--genetics
Membrane Proteins--genetics
Muscle, Skeletal--chemistry
Muscular Dystrophies--congenital
Mutation
N-Acetylglucosaminyltransferases--genetics
Pentosyltransferases
Phenotype
Prevalence
Proteins--genetics