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Schematic Model of Atlastin-1 Mutations in SPG3A and HSN I
The model shows the distribution of autosomal-dominant, SPG3A-associated mutations and their amino acid residue changes, as well as the novel ATL1 mutations (bold letters) associated with HSN I identified in this study. Mutations known to be associated with peripheral neuropathies are underlined. Exons 1–14 are indicated.
