title: Serial prenatal and postnatal MRI of dystroglycanopathy in a patient with familial B3GALNT2 mutation.
abstract: The dystroglycanopathies are a heterogeneous group of conditions, with mutations in B3GALNT2 described in association with congenital muscular dystrophy. The serial prenatal MRI findings in this disorder have not been well described. We present sequential prenatal and postnatal MRI findings in a boy with compound heterozygous mutations in B3GALNT2, as well as the MRI findings of his two siblings with similar mutations. These findings provide new insight into the molecular pathogenesis and neurodevelopment of congenital muscular dystrophy.
authors.affiliation: Department of Radiology, Mayo Clinic, 200 First St. SW, Rochester, MN, 55905, USA. ho.mai@mayo.edu.
authors.forename: Mai-Lan
authors.identifier: http://orcid.org/0000-0002-9455-1350
authors.initials: ML
authors.lastname: Ho
authors.affiliation: Department of Radiology, University of California, San Francisco, San Francisco, CA, USA.
authors.forename: Orit A
authors.initials: OA
authors.lastname: Glenn
authors.affiliation: Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.|Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
authors.forename: Eliott H
authors.initials: EH
authors.lastname: Sherr
authors.affiliation: Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.
authors.forename: Jonathan B
authors.initials: JB
authors.lastname: Strober
mesh_terms: D000328:Adult; D049030:Dystroglycans; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital* / Q000000981:diagnostic imaging*; D009154:Mutation; D017350:N-Acetylgalactosaminyltransferases / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D049030:Dystroglycans; C000594712:B3GALNT2 protein, human; D017350:N-Acetylgalactosaminyltransferases
keywords: Children; Cobblestone lissencephaly; Congenital muscular dystrophy; Dystroglycanopathy; Fetus; Magnetic resonance imaging