Spg34
Mostrando 1-2 de 2 artigos, teses e dissertações.
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1. Genetic research of two new neurodegenerative dieases; Spoan Syndrome (Spastic Paraglegia with Optic Atrophy and Neuropathy) and SPG34 / Investigação genética de duas novas doenças neurodegenerativas: síndrome de Spoan (Spastic Paraglegia with Optic Atrophy and Neuropathy) e SPG34
We studied two large families with expressions of neurodegenerative diseases. One is from the high west of the state of Rio Grande do Norte and the other from São José do Rio Preto region, in São Paulo. The first, an extended family with a tradition of consanguineous marriages, has 68 individuals affected by the syndrome named by us Spoan (Spastic Paraple
Publicado em: 2008
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2. Hereditary Spastic Paraplegia SPG13 Is Associated with a Mutation in the Gene Encoding the Mitochondrial Chaperonin Hsp60
SPG13, an autosomal dominant form of pure hereditary spastic paraplegia, was recently mapped to chromosome 2q24-34 in a French family. Here we present genetic data indicating that SPG13 is associated with a mutation, in the gene encoding the human mitochondrial chaperonin Hsp60, that results in the V72I substitution. A complementation assay showed that wild-
The American Society of Human Genetics.