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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Detalhes bibliográficos
Autor principal: Carmona, S (author)
Outros Autores: Marecos, C (author), Amorim, M (author), Ferreira, AC (author), Conceição, C (author), Brás, J (author), Duarte, ST (author), Guerreiro, R (author)
Formato: article
Idioma:eng
Publicado em: 2018
Assuntos:
Hereditary Spastic Paraplegias
Polymicrogyria
HDE GEN
HDE NRAD
HDE NEU PED
HDE MTB
Texto completo:http://hdl.handle.net/10400.17/3085
País:Portugal
Oai:oai:repositorio.chlc.min-saude.pt:10400.17/3085

Texto Completo

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

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