Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia

BACKGROUND: Mutations in ARL6IP1, which encodes a tetraspan membrane protein localized to the endoplasmic reticulum (ER), have been recently described in a large family with a complicated form of hereditary spastic paraplegia (HSP). CASE PRESENTATION: We sought to expand the HSP phenotype associated...

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Dades bibliogràfiques
Publicat a:BMC Med Genet
Autors principals: Wakil, Salma M., Alhissi, Safa, Al Dossari, Haya, Alqahtani, Ayesha, Shibin, Sherin, Melaiki, Brahim T., Finsterer, Josef, Al-Hashem, Amal, Bohlega, Saeed, Alazami, Anas M.
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2019
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6610916/
https://ncbi.nlm.nih.gov/pubmed/31272422
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0851-6
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