Severe mitochondrial cytopathy with complete A-V block, PEO, and mtDNA deletions

Pediatric Neurology

Volumn 27, Issue 3, 2002, Pages 213-216

  Marín García, José ^a   Goldenthal, Michael J ^a   Flores Sarnat, Laura ^b   Sarnat, Harvey B ^b  

^a The Molecular Cardiology and Neuromuscular Institute   (United States)

^b CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE (UBIQUINONE);

ADOLESCENT; ARTICLE; ATRIOVENTRICULAR BLOCK; CASE REPORT; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE COURSE; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA DAMAGE; DNA REPLICATION; EXTERNAL OPHTHALMOPLEGIA; GENE DELETION; HEARING LOSS; HUMAN; KEARNS SAYRE SYNDROME; MALE; MUSCLE BIOPSY; MUSCLE WEAKNESS; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; SKELETAL MUSCLE; ULTRASTRUCTURE;

ADOLESCENT; BIOPSY; CHROMOSOME DELETION; CHROMOSOME MAPPING; CYTOCHROME-C OXIDASE DEFICIENCY; DIAGNOSIS, DIFFERENTIAL; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; ELECTRON TRANSPORT COMPLEX III; HEART BLOCK; HUMANS; KEARNS-SAYER SYNDROME; MALE; MICROSCOPY, ELECTRON; MUSCLE, SKELETAL; NADH, NADPH OXIDOREDUCTASES; PHENOTYPE;

EID: 0036710194     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(02)00426-5     Document Type: Article

References (7)

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