关键词: Ataxia SPG7 palatal tremor paraplegin spastic paraplegia 7

来  源:   DOI:10.1002/ccr3.1109   PDF(Sci-hub)

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.
摘要:
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