MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles

被引：8

作者：

Chaussenot, Annabelle ^{[1
]}

Rouzier, Cecile ^{[1
]}

Fragaki, Konstantina ^{[1
]}

Sacconi, Sabrina ^{[1
]}

Ait-El-Mkadem, Samira ^{[1
]}

Paquis-Flucklinger, Veronique ^{[1
]}

Bannwarth, Sylvie ^{[1
]}

机构：

[1] Univ Cote Azur, CHU Nice, INSERM, CNRS,IRCAN, Nice, France

来源：

NEUROLOGY-GENETICS | 2018年 / 4卷 / 05期

关键词：

COMPLEX-III DEFICIENCY; MITOCHONDRIAL ENCEPHALOMYOPATHY; MUTATION; PATIENT;

D O I：

10.1212/NXG.0000000000000268

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The oxidative phosphorylation system, involved in cellular adenosine triphosphate production, is composed of 5 complexes (complexes I-V). The complex III catalyzes the transfer of electrons from ubiquinol to cytochrome c and contains 11 subunits among which only cytochrome b is encoded by a mitochondrial gene: MT-CYB. Nonsense, missense, and frameshift mutations in MT-CYB have been reported in patients mainly presenting with an exercise intolerance associated with encephalomyopathy, cardiomyopathy, or multisystemic disorder. (1-4) We report an in-frame 21-base pair (bp) deletion in MT-CYB responsible for a severe clinical presentation with an atypical brain MRI of mitochondrial diseases.

引用

页数：3

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