Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness

American Journal of Medical Genetics, Part A

Volumn 140, Issue 20, 2006, Pages 2216-2222

  Feigenbaum, Annette ^a   Bai, Ren Kui ^b   Doherty, Emily S ^c   Kwon, Haeyoung ^d   Tan, Duanjun ^e   Sloane, Avril ^a   Cutz, Ernest ^a   Robinson, Brian H ^a   Wong, Lee Jun C ^b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d Dongduk Women's University   (South Korea)

^e GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

15458T > C; 15519T > C; 5783G > A; Cardiomyopathy; Mitochondrial myopathy; mtDNA mutation

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; PROLINE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SERINE; SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE;

ALPHA HELIX; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD; CARDIOMYOPATHY; CASE REPORT; COMPLEX I DEFICIENCY; COMPLEX II DEFICIENCY; COMPLEX III DEFICIENCY; CYTOCHROME C OXIDASE DEFICIENCY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ANALYSIS; FATALITY; FEMALE; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC SCREENING; HAIR FOLLICLE; HEARING IMPAIRMENT; HEART FAILURE; HUMAN; HUMAN CELL; HUMAN TISSUE; KIDNEY FAILURE; MUSCLE BIOPSY; MYOPATHY; POINT MUTATION; PRIORITY JOURNAL; RESPIRATORY CHAIN; RNA STABILITY; SCHOOL CHILD; SHORT STATURE; SLOW MUSCLE FIBER; SYSTEMIC DISEASE;

ABNORMALITIES, MULTIPLE; BASE PAIRING; BASE SEQUENCE; CARDIOMYOPATHIES; CHILD; DEAFNESS; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA, MITOCHONDRIAL; FEMALE; HUMANS; KIDNEY FAILURE; MITOCHONDRIAL DISEASES; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; RENAL INSUFFICIENCY;

EID: 33749470847     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31436     Document Type: Article

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