Original paper
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders
Abstract
To date, 3 AIFM1 (apoptosis inducing factor mitochondrial 1, located on Xq26.1 ) mutations have been reported: 2 missense changes (c.923G>A/p.Gly308Glu; c.1478A>T/p.Glu493Val) and a 3-basepair deletion (c.601delAGA/p.Arg201del). Two mutations have been described in early-onset severe mitochondrial encephalomyopathy related to impaired oxidative phosphorylation.1,2 A third mutation is associated with Cowchock syndrome, or Charcot-Marie-Tooth X4...
Paper Details
Title
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders
Published Date
May 26, 2015
Journal
Volume
84
Issue
21
Pages
2193 - 2195
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Notes
History