Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

Affiliations

¹ 1 Department of Clinical Genetics, Unit Clinical Genomics, Maastricht University Medical Centre, Maastricht, The Netherlands2 School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands3 Biomeditech and Tampere University Hospital, University of Tampere, FI-33014, Finland Mike.Gerards@maastrichtuniversity.nl.
² 4 Department of Neurology, Erasmus MC, Rotterdam, The Netherlands.
³ 1 Department of Clinical Genetics, Unit Clinical Genomics, Maastricht University Medical Centre, Maastricht, The Netherlands2 School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.

Comment

Mike Gerards et al. Brain. 2014 Sep.

. 2014 Sep;137(Pt 9):e296.

doi: 10.1093/brain/awu129. Epub 2014 May 30.

¹ 1 Department of Clinical Genetics, Unit Clinical Genomics, Maastricht University Medical Centre, Maastricht, The Netherlands2 School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands3 Biomeditech and Tampere University Hospital, University of Tampere, FI-33014, Finland Mike.Gerards@maastrichtuniversity.nl.
² 4 Department of Neurology, Erasmus MC, Rotterdam, The Netherlands.
³ 1 Department of Clinical Genetics, Unit Clinical Genomics, Maastricht University Medical Centre, Maastricht, The Netherlands2 School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.

No abstract available

Comment on

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.
Gerards M, Kamps R, van Oevelen J, Boesten I, Jongen E, de Koning B, Scholte HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H. Gerards M, et al. Brain. 2013 Mar;136(Pt 3):882-90. doi: 10.1093/brain/awt013. Epub 2013 Feb 18. Brain. 2013. PMID: 23423671
Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
Haack TB, Klee D, Strom TM, Mayatepek E, Meitinger T, Prokisch H, Distelmaier F. Haack TB, et al. Brain. 2014 Sep;137(Pt 9):e295. doi: 10.1093/brain/awu128. Epub 2014 May 30. Brain. 2014. PMID: 24878502 No abstract available.