Autosomal dominant hereditary spastic paraplegia: Novel mutations in the REEP1 gene (SPG31)

BACKGROUND: Mutations in the SPG4 gene (spastin) and in the SPG3A gene (atlastin) account for the majority of 'pure' autosomal dominant form of hereditary spastic paraplegia (HSP). Recently, mutations in the REEP1 gene were identified to cause autosomal dominant HSP type SPG31. The purpose...

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Main Authors: Schlang, Katharina J, Arning, Larissa, Epplen, Joerg T, Stemmler, Susanne
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2008
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2492855/
https://ncbi.nlm.nih.gov/pubmed/18644145
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-9-71
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