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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| Main Authors: | , , , , , , , , , |
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| Format: | Book |
| Published: |
BMC,
2019-07-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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