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Expanded phenotype in a patient with spastic paraplegia 7
Jennifer Gass1,2, Patrick R Blackburn1,2, Jessica Jackson2
1Center for Individualized Medicine Mayo Clinic 4500 San Pablo Road South Jacksonville Florida 32224 USA.
Clinical Case Reports
|October 14, 2017
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.
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