Literature summary for 2.4.1.313 extracted from

Hedberg, C.; Oldfors, A.; Darin, N.
B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations (2014), Eur. J. Hum. Genet., 22, 707-710.

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Application

Application	Comment	Organism
medicine	a 5-year-old patient heterozygous for a one-base duplication and a missense mutation in the gene B3GALNT2 patient shows psychomotor retardation, ataxia, spasticity, muscle weakness and increased serum creatine kinase levels. The skeletal muscle displays reduced glycosylated alpha-dystroglycan. The brain at 3.5 years of age shows increased T2 signal from supratentorial and infratentorial white matter, a hypoplastic pons and subcortical cerebellar cysts. The patient shows a milder phenotype than previously described patients with mutations in the B3GALNT2 gene	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q8NCR0	-	-

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Release 2023.1 (January 2023)