Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

Journal of Inherited Metabolic Disease

Volumn 21, Issue 1, 1998, Pages 2-8

  Dionisi Vici, C ^a   Seneca, S ^b   Zeviani, M ^a   Fariello, G ^a   Rlmoldi, M ^c   Bertini, E ^a   De Meirleir, L ^b  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

LEUCINE; MITOCHONDRIAL DNA; PROLINE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

ARTICLE; CASE REPORT; EXTRACHROMOSOMAL INHERITANCE; GENE MUTATION; HUMAN; INFANT; LEIGH DISEASE; MALE; NEWBORN; POINT MUTATION; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; SUDDEN DEATH;

ADENOSINE TRIPHOSPHATASES; CYSTEINE; DNA, MITOCHONDRIAL; HUMANS; INFANT; LEIGH DISEASE; MALE; MITOCHONDRIA; PEDIGREE; POINT MUTATION; SUDDEN INFANT DEATH; THREONINE; TOMOGRAPHY SCANNERS, X-RAY COMPUTED;

EID: 0031965039     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005397227996     Document Type: Article

References (17)

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