Mitochondrial DNA 11777C>A mutation associated leigh syndrome: Case report with a review of the previously described pedigrees

NeuroMolecular Medicine

Volumn 12, Issue 3, 2010, Pages 277-284

  Hadzsiev, Kinga ^a   Maasz, Anita ^a   Kisfali, Peter ^a   Kalman, Endre ^b   Gomori, Eva ^b   Pal, Endre ^b   Berenyi, Ervin ^c   Komlosi, Katalin ^a   Melegh, Bela ^a  

^a UNIVERSITY OF PÉCS   (Hungary)

^b UNIVERSITY OF PÉCS   (Hungary)

^c Medical and Health Sciences Centre   (Hungary)

Author keywords

Leigh syndrome; Mitochondrial DNA mtDNA 11777C> A; Mitochondrial mutation

Indexed keywords

MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE;

ARTICLE; AUTOPSY; CARDIOPULMONARY INSUFFICIENCY; CASE REPORT; CEREBRAL PALSY; CONVULSION; DNA ISOLATION; GENE MUTATION; GRAY MATTER; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; INFANT MORTALITY; LEIGH DISEASE; LIVER; MALE; MEDULLA OBLONGATA; MESENCEPHALON; MUSCLE HYPOTONIA; MYOCLONUS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SKELETAL MUSCLE; SPECTROSCOPY;

BRAIN; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FATAL OUTCOME; FEMALE; HAPLOTYPES; HUMANS; INFANT; LEIGH DISEASE; MALE; PEDIGREE; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 78649962110     PISSN: 15351084     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12017-010-8115-9     Document Type: Article

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