Biomaterial Database

Kearns-Sayre syndrome with muscle mitochondrial DNA deletion. 1988

P Lestienne, and G Ponsot

UI	MeSH Term	Description	Entries
D007625	Kearns-Sayre Syndrome	A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)	Kearns Syndrome,CPEO with Myopathy,CPEO with Ragged Red Fibers,Chronic Progressive External Ophthalmoplegia with Myopathy,Cpeo With Ragged-Red Fibers,Kearn-Sayre Mitochondrial Cytopathy,Kearns Sayre Syndrome,Kearns' Syndrome,Kearns-Sayre Mitochondrial Cytopathy,Kearns-Sayre-Shy-Daroff Syndrome,Oculocraniosomatic Syndrome,Ophthalmoplegia Plus Syndrome,Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy,Ophthalmoplegia, Progressive External, With Ragged-Red Fibers,Ophthalmoplegia-Plus Syndrome,CPEO with Myopathies,Cytopathies, Kearns-Sayre Mitochondrial,Cytopathy, Kearn-Sayre Mitochondrial,Cytopathy, Kearns-Sayre Mitochondrial,Kearn Sayre Mitochondrial Cytopathy,Kearn Syndrome,Kearns Sayre Mitochondrial Cytopathy,Kearns Sayre Shy Daroff Syndrome,Kearns-Sayre Mitochondrial Cytopathies,Mitochondrial Cytopathies, Kearns-Sayre,Mitochondrial Cytopathy, Kearn-Sayre,Mitochondrial Cytopathy, Kearns-Sayre,Myopathies, CPEO with,Myopathy, CPEO with,Oculocraniosomatic Syndromes,Ophthalmoplegia Plus Syndromes,Ophthalmoplegia-Plus Syndromes,Sayre Syndrome, Kearns,Syndrome, Kearns,Syndrome, Kearns Sayre,Syndrome, Kearns',Syndrome, Kearns-Sayre,Syndrome, Kearns-Sayre-Shy-Daroff,Syndrome, Oculocraniosomatic,Syndrome, Ophthalmoplegia Plus,Syndrome, Ophthalmoplegia-Plus,Syndromes, Ophthalmoplegia-Plus
D008931	Mitochondria, Muscle	Mitochondria of skeletal and smooth muscle. It does not include myocardial mitochondria for which MITOCHONDRIA, HEART is available.	Sarcosomes,Mitochondrion, Muscle,Muscle Mitochondria,Muscle Mitochondrion,Sarcosome
D009886	Ophthalmoplegia	Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles.	Oculomotor Paralysis,External Ophthalmoplegia,Internal Ophthalmoplegia,Ophthalmoparesis,External Ophthalmoplegias,Internal Ophthalmoplegias,Ophthalmopareses,Ophthalmoplegia, External,Ophthalmoplegia, Internal,Ophthalmoplegias,Ophthalmoplegias, External,Ophthalmoplegias, Internal,Paralysis, Oculomotor
D002872	Chromosome Deletion	Actual loss of portion of a chromosome.	Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D004272	DNA, Mitochondrial	Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.	Mitochondrial DNA,mtDNA
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man