A clinical, genetic, and biochemical cha
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Alessia Arnoldi; Alessandra Tonelli; Francesca Crippa; Gaetano Villani; Consigli
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Article
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2008
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John Wiley and Sons
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English
โ 471 KB
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Mutations in the SPG7 gene encoding a mitochondrial protein termed paraplegin, are responsible for a recessive form of hereditary spastic paraparesis. Only few studies have so far been performed in large groups of hereditary spastic paraplegia (HSP) patients to determine the frequency of SPG7 mutati