Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrom...
Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases
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Author / Creator
Pierson, Tyler Mark , Adams, David , Bonn, Florian , Martinelli, Paola , Cherukuri, Praveen F. , Teer, Jamie K. , Hansen, Nancy F. , Cruz, Pedro , Mullikin for the NISC Comparative Sequencing Program, James C. , Blakesley, Robert W. , Golas, Gretchen , Kwan, Justin , Sandler, Anthony , Fuentes Fajardo, Karin , Markello, Thomas , Tifft, Cynthia , Blackstone, Craig , Rugarli, Elena I. , Langer, Thomas , Gahl, William A. and Toro, Camilo
Publisher
United States: Public Library of Science
Journal title
Language
English
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Publisher
United States: Public Library of Science
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Scope and Contents
Contents
We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. Whole-exome sequencing identified a homozygous missense mutation (c.1847G>...
Alternative Titles
Full title
Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases
Authors, Artists and Contributors
Author / Creator
Adams, David
Bonn, Florian
Martinelli, Paola
Cherukuri, Praveen F.
Teer, Jamie K.
Hansen, Nancy F.
Cruz, Pedro
Mullikin for the NISC Comparative Sequencing Program, James C.
Blakesley, Robert W.
Golas, Gretchen
Kwan, Justin
Sandler, Anthony
Fuentes Fajardo, Karin
Markello, Thomas
Tifft, Cynthia
Blackstone, Craig
Rugarli, Elena I.
Langer, Thomas
Gahl, William A.
Toro, Camilo
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Primary Identifiers
Record Identifier
TN_cdi_plos_journals_1313520751
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1313520751
Other Identifiers
ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1002325
