Reversible Infantile Respiratory Chain Deficiency

Schara, U; Della, Marina, A; Horvath, R

doi:10.1016/B978-0-12-800877-5.00015-2

Reversible Infantile Respiratory Chain Deficiency

Lookup NU author(s): Professor Rita Horvath ORCiD

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Abstract

© 2016 Elsevier Inc. All rights reserved. Here we provide detailed clinical and laboratory investigations of a case with a rare inherited mitochondrial disease, reversible infantile respiratory chain deficiency myopathy. The clinical symptoms were variable in affected siblings, and the differential diagnosis was changing through the clinical course of the disease. The recognition of cases with reversible mitochondrial disease is sometimes challenging, but it is of utmost importance because of the excellent prognosis of this disease. Understanding the recovery may provide further insights to major disease mechanisms and modifiers in mitochondrial disease.