A MELAS syndrome family harboring two mutations in mitochondrial genome

Experimental and Molecular Medicine

Volumn 40, Issue 3, 2008, Pages 354-360

  Choi, Byung Ok ^a   Jung, Hee Hwang ^b   Kim, Joonki ^b   Eun, Min Cho ^b   Sun, Young Cho ^a   Su, Jin Hwang ^a   Hyang, Woon Lee ^a   Song, Ja Kim ^b   Ki, Wha Chung ^b  

^a Ewha Womans University School of Medicine   (South Korea)

^b Kongju National University   (South Korea)

Author keywords

Asian continental ancestry group; Cataract; Cytochrome c oxidase deficiency; DNA, mitochondrial; Korea; MELAS syndrome; Mutation, missense; ND5 protein, human

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE;

ADULT; ARTICLE; ASIAN; BRAIN; CASE REPORT; CATARACT; DIFFUSION WEIGHTED IMAGING; ENZYME SUBUNIT; ETHNIC GROUP; FEMALE; GENE MUTATION; GENOME; HUMAN; KOREA; MALE; MELAS SYNDROME; MISSENSE MUTATION; MITOCHONDRION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 46449106965     PISSN: 12263613     EISSN: 20926413     Source Type: Journal    
DOI: 10.3858/emm.2008.40.3.354     Document Type: Article

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