Kearns-Sayre syndrome with a novel mitochondrial dna deletion

Journal of Child Neurology

Volumn 15, Issue 8, 2000, Pages 555-558

  Marin Garcia, J ^a   Goldenthal, M J ^a   Sarnat, H B ^a  

^a Molecular Cardiology Institute   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CITRATE SYNTHASE; MITOCHONDRIAL DNA; MITOCHONDRIAL ENZYME;

ADOLESCENT; ARTICLE; CASE REPORT; CELL ULTRASTRUCTURE; CLINICAL FEATURE; ENZYME ACTIVITY; GENE DELETION; HUMAN; KEARNS SAYRE SYNDROME; MALE; MUSCLE BIOPSY; MUSCLE WEAKNESS; OPHTHALMOPLEGIA; PATHOGENESIS; PRIORITY JOURNAL; PTOSIS; RETINITIS PIGMENTOSA;

EID: 0033840265     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307380001500812     Document Type: Article

References (10)

1. Impaired mitochondrial function in idiopathic dilated cardiomyopathy Biochemical and molecular analysis
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4. Sequence and organization of the human mitochondrial genome
5. Clinical syndromes associated with ragged red fibers
6. Deletions of mitochondrial DNA in Kearns-Sayre syndrome
7. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
8. Deletions of mtDNA in patients with mitochondrial myopathies
9. An autosomal dominant disorder with multiple deletions of mitochondrial DNA at the D-loop region
10. Report of the committee on human mitochondrial DNA