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GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneSPG7
Other namesCAR; PGN; CMAR; SPG5C; FLJ37308; MGC126331; MGC126332
Gene namespastic paraplegia 7 (pure and complicated autosomal recessive)
Gene inheritance categorySALS genes
CategoryMITOCHONDRIAL DEFECTS
Chromosome16q24.3
Genomic CoordinatesChr16:89574805-89624174 ( +)
BackgroundMutations in spastin and paraplegin are the most common causes of hereditary spastic paraparesis. Paraplegin is a nuclear encoded mitochondrial metalloprotease.
ResultNo association demonstrated/ replicated with paraplegin
Total Mutations0
Total Affected0

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