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Article

Leber's hereditary optic neuropathy: genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family.

Neurology - 1 Aug 1991

Cortelli P, Montagna P, Avoni P, Sangiorgi S, Bresolin N, Moggio M, Zaniol P, Mantovani V, Barboni P, Barbiroli B

Abstract excerpt

Three siblings of a family affected with Leber's hereditary optic neuropathy (LHON) showed a mitochondrial DNA mutation at position 11778. The lactate response to a standardized effort was increased in only one case. Muscle biopsies and biochemistry of muscle and platelet mitochondrial enzymes were normal. All patients showed an altered energy metabolism during exercise and during recovery after exercise on...

Topics

Adenosine Triphosphate
Adult
Brain
DNA, Mitochondrial
Energy Metabolism
Humans
Magnetic Resonance Imaging
Male
Muscles
Mutation
Optic Atrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Phosphocreatine

Phosphorus

Source

Identifiers

PMID: 1866007
DOI: 10.1212/wnl.41.8.1211

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1866007-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Leber's hereditary optic neuropathy: genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family.PMID 1866007Read ↗

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