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Reversible Infantile Respiratory Chain Deficiency

Lookup NU author(s): Professor Rita Horvath

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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.


Publication metadata

Author(s): Schara U, Della Marina A, Horvath R

Publication type: Book Chapter

Publication status: Published

Book Title: Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis

Year: 2015

Pages: 127-133

Online publication date: 04/12/2015

Acceptance date: 01/01/1900

Publisher: Elsevier Inc.

URL: https://doi.org/10.1016/B978-0-12-800877-5.00015-2

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

Library holdings: Search Newcastle University Library for this item

ISBN: 9780128011492


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