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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Détails bibliographiques
Publié dans:Mol Genet Genomic Med
Auteurs principaux: 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
Langue:Inglês
Publié: John Wiley and Sons Inc. 2020
Sujets:
Original Articles
Accès en ligne: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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