AP4S1 Splice-Site Mutation in a Case of Spastic Paraplegia Type 52 with Polymicrogyria

Hereditary spastic paraplegias (HSPs) are a group of rare inherited neurodegenerative disorders that result from primary retrograde dysfunction of the long descending fibers of the corticospinal tract, causing lower limb spasticity and muscular weakness. This group of diseases has a heterogeneous cl...

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Bibliographic Details
Main Author: Carmona, S (author)
Other Authors: Marecos, C (author), Amorim, M (author), Ferreira, AC (author), Conceição, C (author), Brás, J (author), Duarte, ST (author), Guerreiro, R (author)
Format: article
Language:eng
Published: 2018
Subjects:
Hereditary Spastic Paraplegias
Polymicrogyria
HDE GEN
HDE NRAD
HDE NEU PED
HDE MTB
Online Access:http://hdl.handle.net/10400.17/3085
Country:Portugal
Oai:oai:repositorio.chlc.min-saude.pt:10400.17/3085

Internet

http://hdl.handle.net/10400.17/3085

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