Article
Serial prenatal and postnatal MRI of dystroglycanopathy in a patient with familial B3GALNT2 mutation.
Pediatric radiology - 1 Jun 2017
Ho Mai-Lan, Glenn Orit A, Sherr Eliott H, Strober Jonathan B
Abstract excerpt
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...
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