We found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleWhole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.AuthorsPierson TM; Adams D; Bonn F; Martinelli P; Cherukuri PF; Teer JK; Hansen NF; Cruz P; Mullikin For The Nisc Comparative Sequencing Program JC; Blakesley RW; Golas G; Kwan J; Sandler A; Fuentes Fajardo K; Markello T; Tifft C; Blackstone C; Rugarli EI; Langer T; Gahl WA; Toro CPublicationPLoS genetics, 2011, Vol 7, Issue 10, pe1002325ISSN1553-7404Publication typearticleDOI10.1371/journal.pgen.1002325