Case report identifies two novel mutations in hereditary spastic paraplegia, suggesting implications for molecular mechanisms.
We found two novel complex heterozygous mutations, c.6738_6739insT and c.5934_5935insTAACCTGGAA, which enriched the phenotypic spectrum of SPG11 mutations related to hereditary spastic paraplegia and may help to determine the molecular mechanism of hereditary spastic paraplegia with thinning of the corpus callosum.
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