Matsumoto, Ayumi

Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation. [electronic resource] - Brain & development Sep 2019 - 726-730 p. digital

Publication Type: Case Reports; Journal Article

1872-7131

10.1016/j.braindev.2019.04.009 doi


Child, Preschool
Disease Progression
Epilepsy--genetics
Homozygote
Humans
Japan
Male
Membrane Proteins--genetics
Mobility Limitation
Mutation
Neuronal Ceroid-Lipofuscinoses--genetics
Seizures--genetics
Tripeptidyl-Peptidase 1
Walking--physiology