TY - JOUR T1 - New phenotype caused by POMGNT2 mutations JF - BMJ Case Reports JO - BMJ Case Reports DO - 10.1136/bcr-2021-242358 VL - 14 IS - 7 SP - e242358 AU - Marco Cassone AU - Chiara Fiorillo AU - Federico Zara AU - Carlo Vitali Y1 - 2021/07/01 UR - http://casereports.bmj.com/content/14/7/e242358.abstract N2 - 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 phenotype between the severe and mild form, characterised by significant malformations of the cortex with myopatic symptoms, this increases the genotype–phenotype correlation knowledge about POMGNT2 gene mutations. New homozygous missense mutation on POMGNT2 (c.511 G>A, p.Asp171Asn, rs768063378) was detected. ER -