Abstract
Summary: We report two siblings with a mitochondrial respiratory chain defect who presented with progressive bulbar paralysis of childhood (Fazio-Londe disease). Mitochondrial respiratory chain defects should be considered in the differential diagnosis of this rare clinical entity.
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Roeleveld-Versteegh, A.B.C., Braun, K.P.J., Smeitink, J.A.M. et al. Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood. J Inherit Metab Dis 27, 281–283 (2004). https://doi.org/10.1023/B:BOLI.0000028836.91788.30
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DOI: https://doi.org/10.1023/B:BOLI.0000028836.91788.30