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Article

Neurological presentations of mitochondrial diseases.

Journal of inherited metabolic disease - 1 Jan 1996

Zeviani M, Bertagnolio B, Uziel G

Abstract excerpt

We present here a report on a 5-year experience in clinical investigation, diagnostic management and molecular genetic studies of neuromitochondrial disorders, defined on the basis of morphological, biochemical and genetic findings. Leigh disease is the most frequent clinical presentation in infancy and childhood, but symptoms at onset are poorly informative. In paediatric cases, lactic acidosis and...

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PMID: 8884574
DOI: 10.1007/BF01799111

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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