| Literature DB >> 30318261 |
E Kaphan1, H Bou Ali2, M Gastaldi3, C Acquaviva4, C Vianey-Saban4, C Rouzier5, K Fragaki5, S Bannwarth5, V Paquis-Flucklinger5, N Romero6, A Behin6, A Lombès7, C Jardel7, O Rigal8, P Laforêt6.
Abstract
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.Entities:
Keywords: Cytochrome b; Exercise intolerance; MADD; Mitochondrial disease; Multiple acyl-CoA dehydrogenase deficiency; Myopathy
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Year: 2018 PMID： 30318261 DOI： 10.1016/j.neurol.2018.03.014
Source DB: PubMed Journal: Rev Neurol (Paris) ISSN： 0035-3787 Impact factor: 2.607