An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18)

Hereditary spastic paraplegia (HSP) is a heterogeneous inherited disorder that manifests with lower extremity weakness and spasticity. HSP can be inherited by autosomal dominant, autosomal recessive, and X-linked inheritance patterns. Recent studies have shown that, although rare, mutations in a sin...

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Detalles Bibliográficos
Autores principales: Park, Jin-Mo, Lee, Byeonghyeon, Kim, Jong-Heun, Park, Seong-Yong, Yu, Jinhoon, Kim, Un-Kyung, Park, Jin-Sung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7039913/
https://www.ncbi.nlm.nih.gov/pubmed/32094424
http://dx.doi.org/10.1038/s41598-020-60374-y