Expanding the phenotype of the truncating eIF2γ pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrome
Sofia Ygberg1,2 and Anna Lindstrand3,4
1Neuropediatric Unit, Karolinska University Hospital, Stockholm, Sweden
2Centre for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, Stockholm, Sweden
3Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
4Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
Grant numbers : The Swedish Brain Foundation (FO2020-0351) and the Swedish Research Council (2019-02078)
Running title: Expanding the phenotype of MEHMO
Corresponding author :
Anna Lindstrand
Department of Molecular Medicine and Surgery, Karolinska Institutet
Rare Diseases Research group
Karolinska Institutet and Karolinska University Hospital Solna
S-171 76 Stockholm SWEDEN
E-mail: anna.lindstrand@ki.se; phone: +46 70 5436593; fax: +46 8 51773620