A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders.
作者信息
Ardissone Anna, Piscosquito Giuseppe, Legati Andrea, Langella Tiziana, Lamantea Eleonora, Garavaglia Barbara, Salsano Ettore, Farina Laura, Moroni Isabella, Pareyson Davide, Ghezzi Daniele
机构信息
From the Foundation Institute of Neurology "Carlo Besta," Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy.
出版信息
Neurology. 2015 May 26;84(21):2193-5. doi: 10.1212/WNL.0000000000001613. Epub 2015 May 1.
Abstract
摘要
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Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.牛角综合征与凋亡诱导因子的突变有关。
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Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing.由于连锁分析和全外显子组测序发现 AIFM1 突变导致的产前早期脑室扩大。
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Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.严重的 X 连锁线粒体脑肌病伴凋亡诱导因子基因突变。
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