Juvenile leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: A mitochondrial syndrome presenting from birth to adolescence

Journal of Child Neurology

Volumn 26, Issue 4, 2011, Pages 476-481

  Leshinsky Silver, Esther ^a,b   Shuvalov, Ruslan ^a   Inbar, Shani ^a   Cohen, Sarit ^a   Lev, Dorit ^a,b   Lerman Sagie, Tally ^a,b  

^a WOLFSON MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

ataxia; dystonia; Leigh syndrome; ND6; optic atrophy

Indexed keywords

CARBAMAZEPINE; CARNITINE; CLONAZEPAM; CYSTEINE; IDEBENONE; LACTIC ACID; MITOCHONDRIAL DNA; THREONINE; TRIHEXYPHENIDYL;

ADOLESCENT DISEASE; ADULT; ARTICLE; ATAXIA; BABINSKI REFLEX; BASAL GANGLION; BLOOD SAMPLING; BRADYKINESIA; CASE REPORT; CLINICAL ARTICLE; DYSARTHRIA; DYSMETRIA; DYSTONIA; EPILEPSY; EXTRAPYRAMIDAL SYMPTOM; FEMALE; GENE; GENE MUTATION; HUMAN; IMAGE ANALYSIS; JUVENILE LEIGH SYNDROME; LEIGH DISEASE; MITOCHONDRIAL ND6 GENE; MUSCLE TONE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; RESPIRATORY CHAIN; SUBSTITUTION REACTION; THALAMUS; URINALYSIS; VISUAL IMPAIRMENT;

ATAXIA; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX I; EPILEPSY; FEMALE; HUMANS; LEIGH DISEASE; MUTATION; NADH DEHYDROGENASE; OPTIC ATROPHY; SPECTROPHOTOMETRY; YOUNG ADULT;

EID: 79954622177     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073810384615     Document Type: Article

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