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Volumn 412, Issue 2, 2011, Pages 245-248
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Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation
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Author keywords
Leigh disease maternally inherited; Leigh's disease; Mitochondrial disease; MT ATP6 protein
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Indexed keywords
ANTIBIOTIC AGENT;
ANTICONVULSIVE AGENT;
ANTIPYRETIC AGENT;
BENZODIAZEPINE;
BETA ADRENERGIC RECEPTOR BLOCKING AGENT;
CALCIUM ANTAGONIST;
GLUCOSE;
LACTIC ACID;
MITOCHONDRIAL DNA;
ACUTE DEMYELINATING ENCEPHALITIS;
ADULT;
ADULT ONSET LEIGH SYNDROME;
AMINO ACID SUBSTITUTION;
ANTIBIOTIC THERAPY;
ANTICONVULSANT THERAPY;
ANXIETY;
ARTICLE;
ATAXIA;
BABINSKI REFLEX;
BLURRED VISION;
CASE REPORT;
CEREBELLUM CORTEX;
CEREBROSPINAL FLUID LEVEL;
COMA;
CONFUSION;
DEMYELINATING DISEASE;
DENTATE NUCLEUS;
DIENCEPHALON;
DIPLOPIA;
DYSMETRIA;
ELECTROENCEPHALOGRAPHY;
EPILEPTIC DISCHARGE;
FAMILY HISTORY;
FEMALE;
FOCAL EPILEPTIC DISCHARGE;
FRONTAL CORTEX;
GAZE PARALYSIS;
GENE MUTATION;
GLUCOSE METABOLISM;
GRAND MAL SEIZURE;
HUMAN;
HUMAN CELL;
HUMAN TISSUE;
HYDROCEPHALUS;
INTERNUCLEAR OPHTHALMOPLEGIA;
KIDNEY FAILURE;
LACTATE BLOOD LEVEL;
LEIGH DISEASE;
MENTAL DEFICIENCY;
MESENCEPHALON;
MOTHER;
MUSCLE BIOPSY;
NEUROLOGIC EXAMINATION;
NUCLEAR MAGNETIC RESONANCE IMAGING;
NYSTAGMUS;
OCCIPITAL CORTEX;
OCCIPITAL LOBE;
OPHTHALMOPLEGIA;
PEDIGREE;
POSITRON EMISSION TOMOGRAPHY;
PRIORITY JOURNAL;
PROTEIN EXPRESSION;
PTOSIS;
RELATIVE;
RESPIRATORY DISTRESS;
SIBLING;
SPINA BIFIDA;
TACHYCARDIA;
UPPER RESPIRATORY TRACT INFECTION;
UPWARD GAZE DEFICIT;
UPWARD GAZE PARESIS;
ADULT;
AGE OF ONSET;
DNA, MITOCHONDRIAL;
FEMALE;
GENES, MITOCHONDRIAL;
HUMANS;
LEIGH DISEASE;
MUSCLE, SKELETAL;
MUTATION;
PEDIGREE;
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EID: 80052029019
PISSN: 0006291X
EISSN: 10902104
Source Type: Journal
DOI: 10.1016/j.bbrc.2011.07.076 Document Type: Article |
Times cited : (16)
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References (13)
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