Hereditary spastic paraplegia (SPG 48) with deafness and azoospermia: A case report

Hereditary spastic paraplegias (HSP) are inherited neurodegenerative disorders characterized by progressive paraplegia and spasticity in the lower limbs. SPG48 represents a rare genotype characterized by mutations in AP5Z1, a gene playing a role in intracellular membrane trafficking. This study desc...

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Detalles Bibliográficos
Autores principales: Jin, Ping, Wang, Yu, Nian, Na, Wang, Gong-Qiang, Fu, Xiao-Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10106626/
https://www.ncbi.nlm.nih.gov/pubmed/37077568
http://dx.doi.org/10.3389/fneur.2023.1156100

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10106626/
https://www.ncbi.nlm.nih.gov/pubmed/37077568
http://dx.doi.org/10.3389/fneur.2023.1156100

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