Expanded phenotype in a patient with spastic paraplegia 7.
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ABSTRACT:
SUBMITTER: Gass J
PROVIDER: S-EPMC5628248 | biostudies-literature | 2017 Oct
REPOSITORIES: biostudies-literature
Publications
Expanded phenotype in a patient with spastic paraplegia 7.
Gass Jennifer J Blackburn Patrick R PR Jackson Jessica J Macklin Sarah S van Gerpen Jay J Atwal Paldeep S PS
Clinical case reports 20170824 10
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 <i>SPG7</i>. ...[more]
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