Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.

@article{Talim2013MultisystemFI,
  title={Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.},
  author={Beril Talim and Angela Pyle and Helen R. Griffin and Haluk Topaloğlu and Aysegul Tokatli and Michael J. Keogh and Mauro F. Santibanez-Koref and Patrick F. Chinnery and Rita Horvath},
  journal={Brain : a journal of neurology},
  year={2013},
  volume={136 Pt 2},
  pages={
          e228
        }
}
Sir, we read with great interest the report describing 12 patients presented with early onset severe neurological disease, characterized by unique MRI features of leukoencephalopathy involving the thalamus and brainstem with high lactate (LTBL; Steenweg et al., 2012). Clinically, the patients fell into two distinct groups. Four patients showed a severe progressive psychomotor regression soon after birth followed by complex irreversible neurological features, however, all patients were alive up… CONTINUE READING
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