Spinal motor neuron involvement in a patient with homozygous PRUNE mutation.

Iacomino, Michele

Spinal motor neuron involvement in a patient with homozygous PRUNE mutation. [electronic resource] - European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society May 2018 - 541-543 p. digital

Publication Type: Case Reports; Journal Article

1532-2130

10.1016/j.ejpn.2017.12.005 doi


Brain Diseases--genetics
Carrier Proteins--genetics
Developmental Disabilities--genetics
Homozygote
Humans
Infant
Male
Motor Neurons--pathology
Muscular Atrophy, Spinal--genetics
Mutation
Nervous System Malformations--genetics
Phenotype
Phosphoric Monoester Hydrolases
Syndrome