pontocerebellar การใช้

Mutations in this gene result in pontocerebellar hypoplasia type 2.
TRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
In addition, mutations in exosome component 3 cause pontocerebellar hypoplasia and spinal motor neuron disease.
Pontocerebellar hypoplasias ( PCH ) represent a group of neurodegenerative autosomal recessive disorders that is caused by mutations in three of the four different subunits of the tRNA-splicing endonuclease complex.
Additional studies have revealed the presence of perfusion anomalies in the thalamus, temporal cortex, basal ganglia, and pontocerebellar ( from the pons to the cerebellum ) locations within subjects brains.