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 (CMTX4), a slowly progressive disorder characterized by axonal neuropathy, hearing loss, and mental retardation.(3,4</SUP)
Ardissone, A., Piscosquito, G., Legati, A., Langella, T., Lamantea, E., Garavaglia, B., et al. (2015). A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders. NEUROLOGY, 84(21), 2193-2195 [10.1212/WNL.0000000000001613].
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders
Ardissone, Anna;Salsano, Ettore;Ghezzi, Daniele
2015
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 (CMTX4), a slowly progressive disorder characterized by axonal neuropathy, hearing loss, and mental retardation.(3,4
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