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