Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency

被引：6

作者：

Kaphan, E. ^{[1
]}

Ali, H. Bou ^{[1
]}

Gastaldi, M. ^{[2
]}

Acquaviva, C. ^{[3
]}

Vianey-Saban, C. ^{[3
]}

Rouzier, C. ^{[4
]}

Fragaki, K. ^{[4
]}

Bannwarth, S. ^{[4
]}

Paquis-Flucklinger, V ^{[4
]}

Romero, N. ^{[8
]}

Behin, A. ^{[8
]}

Lombes, A. ^{[5
,6
]}

Jardel, C. ^{[5
,6
]}

Rigal, O. ^{[7
]}

Laforet, P. ^{[8
]}

机构：

[1] CHU Timone, AP HM, Serv Neurol, Pole Neurosci Clin, 264 Rue St Pierre, F-13005 Marseille, France

[2] CHU Timone, AP HM, Lab Biochim Metab, F-13005 Marseille, France

[3] CHU Lyon, Grp Hosp Est, Ctr Biol & Pathol Est, Serv Malad Hereditaires Metab, F-69500 Bron, France

[4] Univ Cote dAzur, CHU, Inserm, CNRS,IRCAN, Nice, France

[5] GHU Pitie Salpetriere, AP HP, Inserm, Serv Biochim Metab,U1016, F-75651 Paris, France

[6] GHU Pitie Salpetriere, AP HP, Ctr Genet Mol & Chromosom, Inst Cochin, F-75651 Paris, France

[7] Hop Robert Debre, AP HP, Ctr Reference Malad Metab, Serv Biochim Hormonol, F-75019 Paris, France

[8] GH Pitie Salpetriere, Inst Myol, Ctr Reference Pathol Neuromusculaire Paris Est, F-75013 Paris, France

来源：

REVUE NEUROLOGIQUE | 2018年 / 174卷 / 10期

关键词：

Mitochondrial disease; MADD; Multiple acyl-CoA dehydrogenase deficiency; Myopathy; Exercise intolerance; Cytochrome b; COMPLEX-III DEFICIENCY; STOP-CODON MUTATION; CYTOCHROME-B GENE; MISSENSE MUTATION; MITOCHONDRIAL;

D O I：

10.1016/j.neurol.2018.03.014

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe two patients with mitochondrial DNA mutations in the gene encoding cytochrome b (m. 15579A>G, p. Tyr278Cys and m. 15045G>A p. Arg100Gln), which presented as a pure myopathic form (exercise intolerance), with an onset in childhood. Diagnosis was delayed, because acylcarnitine profile showed an increase in medium and long-chain acylcarnitines, suggestive of multiple acyl-CoA dehydrogenase deficiency, riboflavin transporter deficiency or FAD metabolism disorder. Implication of cytochrome b in fatty acid oxidation, and physiopathology of the mutations are discussed. (C) 2018 Elsevier Masson SAS. All rights reserved.

引用

页码：731 / 735

页数：5

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