Unusual findings in Leigh syndrome caused by T8993C mutation

European Journal of Paediatric Neurology

Volumn 13, Issue 6, 2009, Pages 550-552

  Yiş, Uluç ^a   Seneca, Sara ^b   Dirik, Eray ^a   Kurul, Semra Hiz ^a   Özer, Erdener ^a   Çakmakçi, Handan ^a   De Meirleir, Linda ^b  

^a DOKUZ EYLUL UNIVERSITY   (Turkey)

^b UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

Author keywords

Leigh syndrome; Mitochondrial m.8993T>C mutation; Oligoclonal bands

Indexed keywords

ACICLOVIR; CARNITINE; METHYLPREDNISOLONE; OLIGOCLONAL BAND; PROSTAGLANDIN SYNTHASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; RIBOFLAVIN; THIAMINE; UBIDECARENONE;

ARTICLE; ARTIFICIAL VENTILATION; CARDIOPULMONARY INSUFFICIENCY; CASE REPORT; CAUSE OF DEATH; CEREBROSPINAL FLUID ANALYSIS; CHILD; COUGHING; DRUG PULSE THERAPY; ENCEPHALITIS; ENCEPHALOMYELITIS; ENZYME DEFICIENCY; FEMALE; FEVER; GENE MUTATION; HISTOCHEMISTRY; HUMAN; LEIGH DISEASE; MUSCLE BIOPSY; MUSCLE TISSUE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; RESPIRATORY ARREST; TREATMENT RESPONSE; UPPER RESPIRATORY TRACT INFECTION;

BRAIN; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; FEMALE; HUMANS; LEIGH DISEASE; MAGNETIC RESONANCE IMAGING; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; MUSCLE, SKELETAL; MUTATION; OLIGOCLONAL BANDS;

EID: 70350570664     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2008.10.009     Document Type: Article

References (8)

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