G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: Another cause of Leigh syndrome

Journal of Child Neurology

Volumn 15, Issue 11, 2000, Pages 759-761

  Shtilbans, Alexander ^a   Shanske, Sara ^a   Goodman, Svetlana ^a   Sue, Carolyn M ^a   Bruno, Claudio ^a   Johnson, Theodore L ^b   Lava, Neil S ^c   Waheed, Nasir ^d   DiMauro, Salvatore ^a  

^a Columbia University College of Physicians and Surgeons ^*  (United States)

^b Southwestern Vermont Medical Center   (United States)

^c ALBANY MEDICAL COLLEGE   (United States)

^d MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; TRANSFER RNA;

ARTICLE; BLOOD; CARDIOMYOPATHY; CASE REPORT; CHILD; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; FAMILY HISTORY; FEMALE; GENE MUTATION; HEARING LOSS; HUMAN; IMMUNOHISTOCHEMISTRY; LEIGH DISEASE; LIPOMA; MUSCLE; MYOCLONUS EPILEPSY; NEUROPATHOLOGY; NEURORADIOLOGY; PRIORITY JOURNAL; RNA GENE;

ADULT; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; FATAL OUTCOME; FEMALE; GENOTYPE; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; LEIGH DISEASE; MERRF SYNDROME; MUSCLE FIBERS; MUSCLE, SKELETAL; MUTATION, MISSENSE; PEDIGREE; RNA, TRANSFER, LYS;

EID: 0034521771     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307380001501109     Document Type: Article

References (15)

1. Subacute necrotizing encephalomyelopathy in an infant
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3. Clinical features associated with the A→G transition at nucleotide 8344 of mtDNA ("MERRF" mutation)
4. Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease
5. The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: Revisiting the past
6. Lys gene (G8363A)
7. Lys in two families
8. Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family
9. Cytochrome c oxidase deficiency in Leigh syndrome
10. A T→C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome
11. Sequence and organization of the human mitochondrial genome
12. Maternally inherited Leigh syndrome
13. Role of the 1-72 base pair in tRNAs for the activity of Escherichia coli peptidyl-tRNA hydrolase
14. Mitochondrial DNA mutations and pathogenesis
15. Lys gene: Two genotypes produce similar phenotypes