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Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report

Kondakova Olga Borisovna1, Krasnenko Anna Yurievna2,3, Tsukanov Kirill Yurievich2

  • 1Scientific and Practical Centre of Pediatric psychoneurology of Moscow Healthcare Department, Michurinsky prospect, 74, 119602, Moscow, Russia.

BMC Pediatrics
|April 10, 2019
PubMed
Abstract

Keywords:
Dystrophy-dystroglycanopathyMEB diseasePOMGNT1

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