Etiological heterogeneity in X-linked spastic paraplegia.

We describe a large family (K313) having 12 males affected with X chromosome-linked recessive hereditary spastic paraplegia (HSP). The disease phenotype in K313 is characterized by hyperreflexia and a spastic gait, but intelligence is normal. Carrier females have normal gait and unremarkable neurolo...

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Autors principals: Keppen, L D, Leppert, M F, O'Connell, P, Nakamura, Y, Stauffer, D, Lathrop, M, Lalouel, J M, White, R
Format: Artigo
Idioma:Inglês
Publicat: 1987
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1684330/
https://ncbi.nlm.nih.gov/pubmed/3479019
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