A patient with bilateral lesion in the striatum and slowly progressive dystonia secondary to T14487C mutation in the ND6 gene of complex I;Paciente con lesión bilateral del estriado y distonía lentamente progresiva secundarias a la mutación T14487C en el gen ND6 del complejo I de la cadena respiratoria mitocondrial

Revista de Neurologia

Volumn 39, Issue 12, 2004, Pages 1129-1132

  Raspall Chaure, M ^a   Solano, A ^b   Vazquez E ^a   Macaya Ruiz, A ^a   Del Toro Riera, M ^a   Cabezuelo Briones, A ^a   Montoya, J ^b   Andreu, A ^a   Roig Quilis, Manuel ^a  

^a HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^b Lab Genet Bioquim Grupos S   (Spain)

Author keywords

Bilateral lesion to the striatum syndrome; Deficiency of mitochondrial respiratory chain complex I; Leigh's syndrome; Mitochondrial ND6 gene; Progressive dystonia; Trabeculated fibres

Indexed keywords

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ADULT; ARTICLE; BILATERAL STRIATAL LESION SYNDROME; BLOOD ANALYSIS; BRAIN INJURY; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CLINICAL FEATURE; COGNITIVE DEFECT; CORPUS STRIATUM; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DYSTONIA; ENZYME ACTIVITY; FIBER; GENE; GENE MUTATION; HUMAN; LEIGH DISEASE; MALE; METABOLIC DISORDER; MITOCHONDRIAL GENETICS; ND6 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; RESPIRATORY CHAIN; SKELETAL MUSCLE; SYNDROME; TRABECULAR FIBER; URINALYSIS;

EID: 22144470443     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.3912.2004296     Document Type: Article

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