An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18)
Abstract Hereditary spastic paraplegia (HSP) is a heterogeneous inherited disorder that manifests with lower extremity weakness and spasticity. HSP can be inherited by autosomal dominant, autosomal recessive, and X-linked inheritance patterns. Recent studies have shown that, although rare, mutations...
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| Auteurs principaux: | , , , , , , |
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| Format: | article |
| Langue: | EN |
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Nature Portfolio
2020
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| Accès en ligne: | https://doaj.org/article/6712f85ae685492d94fdef7200c71607 |
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