Child Neurology: Severe GMPPB-Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death
Neurology. 2025 Feb 11;104(3):e210300. doi: 10.1212/WNL.0000000000210300. Epub 2025 Jan 15. ABSTRACT Pathogenic variants in GMPPB cause congenital muscular dystrophy through hypoglycosylation of alpha-dystroglycan (OMIM #615350). …