Expanded phenotype in a patient with spastic paraplegia 7.

ABSTRACT: Hereditary spastic paraplegia is a group of clinically and genetically heterogeneous neurodegenerative disorders, often characterized by weakness and spasticity in the lower limbs. In our study, we describe a spastic paraplegia type 7 patient with an expanded phenotype who was diagnosed after the discovery of pathogenic variants in SPG7.

SUBMITTER: Gass J 

PROVIDER: S-EPMC5628248 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature