Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.

ABSTRACT: Recently, exome sequencing has extended our knowledge of genetic causes of developmental delay through identification of de novo, germline mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) in 13 patients with neurodevelopmental disability and a wide range of additional symptoms and signs including hypotonia in 11 and seizures in 10 of the patients. Limb/arm dystonia was found in 2 patients.(1).

SUBMITTER: Steinrucke S 

PROVIDER: S-EPMC5022844 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature