A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype.

Gregory, Mary L

A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype. [electronic resource] - Journal of child neurology Dec 2008 - 1433-8 p. digital

Publication Type: Journal Article

1708-8283

10.1177/0883073808320754 doi


Adult
Black or African American
Arginine--genetics
Child
Child, Preschool
Chromosomes, Human, Pair 5
DNA Mutational Analysis--methods
Family Health
Female
Humans
Male
Middle Aged
Muscle Hypertonia--genetics
Mutation
Phenotype
Proline--genetics
Receptors, Glycine--genetics
Reflex, Abnormal--genetics