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Article

Single large-scale mitochondrial DNA deletion in a patient with encephalopathy, cardiomyopathy, and prominent intestinal pseudo-obstruction.

Neuromuscular disorders : NMD - 1 Jan 2000

Campos Y, Martín M A, Caballero C, Rubio J C, de la Cruz F, Tuñón T, Arenas J

Abstract excerpt

We studied a 62 year-old woman with a clinical phenotype characterized by encephalopathy, restrictive cardiomyopathy, and prominent intestinal pseudo-obstruction. Muscle morphology showed ragged red fibres with ultrastructurally abnormal mitochondrial whereas muscle respiratory chain was normal. Molecular genetics revealed the 'common deletion' in mtDNA, which represented 40% of total mtDNA. These data expand and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 10677865
DOI: 10.1016/s0960-8966(99)00072-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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