Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations

BACKGROUND: SPG11 mutations can cause autosomal recessive hereditary spastic paraplegia (ARHSP) and juvenile amyotrophic lateral sclerosis (JALS). Because these diseases share some clinical presentations and both can be caused by SPG11 mutations, it was considered that definitive diagnosis may not b...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: Khani, Marzieh, Shamshiri, Hosein, Fatehi, Farzad, Rohani, Mohammad, Haghi Ashtiani, Bahram, Akhoundi, Fahimeh Haji, Alavi, Afagh, Moazzeni, Hamidreza, Taheri, Hanieh, Ghani, Mina Tolou, Javanparast, Leila, Hashemi, Seyyed Saleh, Haji‐Seyed‐Javadi, Ramona, Heidari, Matineh, Nafissi, Shahriar, Elahi, Elahe
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2020
Fag:
Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7336765/
https://ncbi.nlm.nih.gov/pubmed/32383541
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1240
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker