Heterogeneous presentation in Leigh syndrome

Journal of Inherited Metabolic Disease

Volumn 20, Issue 5, 1997, Pages 704-705

  Vilarinho, L ^a  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; CASE REPORT; CHILD; HUMAN; LEIGH DISEASE; MALE; NERVE DEGENERATION; RESPIRATORY CHAIN; SCHOOL CHILD;

CHILD; DNA, MITOCHONDRIAL; GENE DELETION; HUMANS; LEIGH DISEASE; MALE;

EID: 0030774614     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005330611147     Document Type: Article

References (3)

1. DiMauro S, De Vivo DC, (1996) Genetic heterogeneity in Leigh syndrome. Ann Neurol 40: 5-7.
2. Leigh D (1951) Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 14: 216-221.
3. Santorelli FM, Barmada MA, Pons R, et al (1996) Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion.Neurology 47: 1320-1323.