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Article

Renal and skin involvement in a patient with complete Kearns-Sayre syndrome.

American journal of medical genetics - 15 Mar 1991

Mori K, Narahara K, Ninomiya S, Goto Y, Nonaka I

Abstract excerpt

We report on a 13-year-old girl with complete Kearns-Sayre syndrome (KSS) and unusual manifestations of anhidrosis and de Toni-Fanconi-Debré syndrome which preceded by several years the onset of KSS triad. Histochemical examination of skeletal muscle showed focal deficiency of cytochrome c oxidase (CCO). Southern blot analysis of mitochondrial DNA (mtDNA) demonstrated a deletion of 5.4 kb in 60% of the total...

Topics

Adolescent
Biopsy
Blotting, Southern
Cytochrome-c Oxidase Deficiency
DNA, Mitochondrial
Electron Transport Complex IV
Fanconi Syndrome
Female
Genetic Variation
Humans
Hypohidrosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Kearns-Sayre Syndrome

Kidney

Muscles

Skin

Source

Identifiers

PMID: 1648309
DOI: 10.1002/ajmg.1320380417

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1648309-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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