KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction.

Duis, Jessica

KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction. [electronic resource] - Annals of neurology Oct 2016 - 633-7 p. digital

Publication Type: Case Reports; Journal Article

1531-8249

10.1002/ana.24744 doi


Apnea--genetics
Child, Preschool
Deglutition Disorders--genetics
Developmental Disabilities--genetics
Fatal Outcome
Female
Frameshift Mutation
Humans
Infant
Kinesins--genetics
Male
Mitochondrial Diseases--complications
Muscle Hypotonia--genetics
Mutation
Myoclonus--genetics
Optic Nerve--abnormalities