Clinical and molecular findings in four new patients harbouring the mtDNA 89937TC mutation

Journal of Inherited Metabolic Disease

Volumn 24, Issue 8, 2001, Pages 883-884

  Vilarinho, L ^a   Barbot, C ^b   Carrozzo, R ^c   Calado, E ^c   Tessa, A ^d   Dionisi Vici, C ^d   Guimaraes A ^e   Santorelli, F M ^d  

^a Instituto Jacinto Magalhaes   (Portugal)

^b HOSPITAL MARIA PIA   (Portugal)

^c HOSPITAL DONA ESTEFÂNIA   (Portugal)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e HOSPITAL DE SANTO ANTÓNIO   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATE; CREATINE PHOSPHATE; CREATININE; LACTIC ACID; MITOCHONDRIAL DNA; N ACETYLASPARTIC ACID;

ADOLESCENT; ADULT; ARTICLE; ATAXIA; BRAIN SCINTISCANNING; CASE REPORT; CEREBELLUM DISEASE; CONSCIOUSNESS DISORDER; DYSARTHRIA; FEMALE; GAIT DISORDER; HUMAN; LACTATE BLOOD LEVEL; LETHARGY; MALE; MOLECULAR GENETICS; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NUCLEOTIDE METABOLISM; NUCLEOTIDE SEQUENCE; PHENOTYPE;

ADENOSINE TRIPHOSPHATASES; ADENOSINE TRIPHOSPHATE; ADOLESCENT; ADULT; DNA, MITOCHONDRIAL; ENERGY METABOLISM; FEMALE; HUMANS; LEIGH DISEASE; MALE; MEMBRANE POTENTIALS; POINT MUTATION;

EID: 0035721111     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1013908728445     Document Type: Article

References (3)

1. The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli
2. Mitochondrial DNA mutations in human disease
3. Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene