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Article

New phenotype caused by POMGNT2 mutations.

BMJ case reports - 22 Jul 2021

Cassone Marco, Fiorillo Chiara, Zara Federico, Vitali Carlo

Abstract excerpt

We present a case report about a Moroccan 3-year-old girl, with an intermediate phenotype of muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 form. We performed clinical and instrumental evaluation, muscle biopsy, genetic screening of 59 genes for different cerebral malformations, follow-up and review of literature. After investigations, we identified an intermediate new...

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Identifiers

PMID: 34301702
DOI: 10.1136/bcr-2021-242358
PMCID: PMC8728375

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