RT Journal Article SR Electronic T1 New phenotype caused by POMGNT2 mutations JF BMJ Case Reports JO BMJ Case Reports FD BMJ Publishing Group Ltd SP e242358 DO 10.1136/bcr-2021-242358 VO 14 IS 7 A1 Marco Cassone A1 Chiara Fiorillo A1 Federico Zara A1 Carlo Vitali YR 2021 UL http://casereports.bmj.com/content/14/7/e242358.abstract AB 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.