A guide to diagnosis and treatment of Leigh syndrome

@article{Baertling2013AGT,
  title={A guide to diagnosis and treatment of Leigh syndrome},
  author={F Baertling and Richard J.T. Rodenburg and J{\"o}rg Schaper and Jan A M Smeitink and Werner J. H. Koopman and Ertan Mayatepek and Eva Morava and Felix Distelmaier},
  journal={Journal of Neurology, Neurosurgery \& Psychiatry},
  year={2013},
  volume={85},
  pages={257 - 265}
}
Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. However, also late-onset cases have been reported. Since its first description by Denis Archibald Leigh in 1951, it has evolved from a postmortem diagnosis, strictly defined by histopathological observations, to a clinical entity with indicative laboratory and radiological findings. Hallmarks of the disease are symmetrical lesions in the basal ganglia or brain stem on MRI, and a… 
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TLDR
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A case report of Leigh syndrome diagnosed by endomyocardial biopsy
TLDR
A case of Leigh syndrome diagnosed by endomyocardial biopsy (EMB), not by skeletal muscle biopsy, is reported, which shows EMB is a useful diagnostic method when there is a difficulty in diagnosing mitochondrial disease by skeletal Muscle biopsy.
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TLDR
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TLDR
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