Neurology. 1979 Aug;29(8):1172-4.

Familial Kearns-Sayre syndrome.

Abstract

The Kearns-Sayre syndrome (KSS) is a distinctive type of progressive external ophthalmoplegia, characterized by pigmentary degeneration of the retina, heart block, elevated concentration of cerebrospinal fluid protein, and abnormal muscle mitochondria. Previously described cases have all been sporadic. Consequently, viral infections and autoimmune disorders have been proposed as etiologies. The occurrence of KSS in two brothers suggests that genetic factors may play a role in the pathogenesis of some cases.

PMID:: 572507; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

Publication Types

Case Reports

MeSH Terms

Substances

Supplemental Content

Save items

Related citations in PubMed

Basal ganglia calcification in Kearns-Sayre syndrome. [Arch Neurol. 1979]
Basal ganglia calcification in Kearns-Sayre syndrome.
Robertson WC Jr, Viseskul C, Lee YE, Lloyd RV. Arch Neurol. 1979 Nov; 36(11):711-3.
[Kearns syndrome. Progressive external ophthalmoplegia, retinal pigment degeneration and heart conduction disorders]. [Schweiz Med Wochenschr. 1977]
[Kearns syndrome. Progressive external ophthalmoplegia, retinal pigment degeneration and heart conduction disorders].
Boltshauser E, Jerusalem F, Niemeyer G, Huber C. Schweiz Med Wochenschr. 1977 Dec 17; 107(50):1880-8.
Autosomal dominant Kearns-Sayre syndrome. [Ophthalmology. 1980]
Autosomal dominant Kearns-Sayre syndrome.
Leveille AS, Newell FW. Ophthalmology. 1980 Feb; 87(2):99-108.
Review Kearns-Sayre syndrome: a case report and review. [Eur J Ophthalmol. 1992]
Review Kearns-Sayre syndrome: a case report and review.
Gross-Jendroska M, Schatz H, McDonald HR, Johnson RN. Eur J Ophthalmol. 1992 Jan-Mar; 2(1):15-20.
Review [Mitochondrial disease and complete heart block. Kearns-Sayre syndrome. Description of a case]. [Minerva Med. 1992]
Review [Mitochondrial disease and complete heart block. Kearns-Sayre syndrome. Description of a case].
Perocchio M, Tomassini B, Biasia R, Belli Valletta M, Cerutti A, Bobba F. Minerva Med. 1992 Dec; 83(12 Suppl 1):7-13.

See reviews... See all...

Cited by 2 PubMed Central articles

Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy. [Arch Dis Child. 1981]
Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy.
Egger J, Lake BD, Wilson J. Arch Dis Child. 1981 Oct; 56(10):741-52.
Review Mitochondrial myopathy: a genetic study of 71 cases. [J Med Genet. 1988]
Review Mitochondrial myopathy: a genetic study of 71 cases.
Harding AE, Petty RK, Morgan-Hughes JA. J Med Genet. 1988 Aug; 25(8):528-35.

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Compound
PubChem chemical compound records that cite the current articles. These references are taken from those provided on submitted PubChem chemical substance records. Multiple substance records may contribute to the PubChem compound record.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Substance
PubChem chemical substance records that cite the current articles. These references are taken from those provided on submitted PubChem chemical substance records.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Familial Kearns-Sayre syndrome.
Familial Kearns-Sayre syndrome.
Neurology. 1979 Aug ;29(8):1172-4.

PubMed
Circular dichroism of hemocyanin.
Circular dichroism of hemocyanin.
J Biochem. 1968 Jun ;63(6):725-9.

PubMed
Subcortical arteriosclerotic encephalopathy (Binswanger): computerized tomograph...
Subcortical arteriosclerotic encephalopathy (Binswanger): computerized tomography.
Neurology. 1979 Aug ;29(8):1102-6.

PubMed
Levels of diazepam in adipose tissue of rats, mice and man.
Levels of diazepam in adipose tissue of rats, mice and man.
Eur J Pharmacol. 1968 Nov ;4(4):464-6.

PubMed
Induction of reversion from the L-form to the sporogenous phase of Bacillus lich...
Induction of reversion from the L-form to the sporogenous phase of Bacillus licheniformis var. endoparasiticus (Benedek).
J Med Microbiol. 1979 May ;12(2):239-43.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Familial Kearns-Sayre syndrome.

Abstract

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

Supplemental Content

Save items

Related citations in PubMed

Cited by 2 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information