Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency

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 sh...

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Bibliographic Details
Published in:Revue neurologique 2018-12, Vol.174 (10), p.731-735
Main Authors: Kaphan, E., Bou Ali, H., Gastaldi, M., Acquaviva, C., Vianey-Saban, C., Rouzier, C., Fragaki, K., Bannwarth, S., Paquis-Flucklinger, V., Romero, N., Behin, A., Lombès, A., Jardel, C., Rigal, O., Laforêt, P.
Format: Article
Language:English
Subjects:
Adult
Aged
Cytochrome b
Cytochromes b - genetics
Diagnosis, Differential
DNA, Mitochondrial - genetics
Exercise intolerance
Exercise Tolerance - genetics
Humans
MADD
Male
Mitochondrial disease
Multiple Acyl Coenzyme A Dehydrogenase Deficiency - diagnosis
Multiple Acyl Coenzyme A Dehydrogenase Deficiency - genetics
Multiple acyl-CoA dehydrogenase deficiency
Muscular Diseases - diagnosis
Muscular Diseases - genetics
Mutation, Missense
Myopathy
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Summary: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.
ISSN:0035-3787
DOI:10.1016/j.neurol.2018.03.014