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

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

Abstract 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 ass...

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Bibliographic Details
Main Authors: Salma M. Wakil, Safa Alhissi, Haya Al Dossari, Ayesha Alqahtani, Sherin Shibin, Brahim T. Melaiki, Josef Finsterer, Amal Al-Hashem, Saeed Bohlega, Anas M. Alazami
Format: Article
Language:English
Published: BMC 2019-07-01
Series:BMC Medical Genetics
Subjects:
Hereditary spastic paraplegia
Autosomal recessive
Whole exome sequencing
ADP ribosylation factor like GTPase 6 interacting protein 1
Online Access:http://link.springer.com/article/10.1186/s12881-019-0851-6

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http://link.springer.com/article/10.1186/s12881-019-0851-6

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