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...

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Publicado en: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
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2020
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Original Articles
Acceso en liña: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
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