Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C

American Journal of Medical Genetics, Part A

Volumn 161, Issue 8, 2013, Pages 2020-2023

  Tarnopolsky, Mark ^a   Meaney, Brandon ^a   Robinson, Brian ^b   Sheldon, Katherine ^c   Boles, Richard G ^c  

^a MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c Courtagen Diagnostic Laboratory ^*  (United States)

Author keywords

Deep sequencing; Homoplasmy; Leigh disease; Mitochondrial disease

Indexed keywords

CITRATE SYNTHASE; CYTOCHROME C OXIDASE; LACTIC ACID; MITOCHONDRIAL DNA;

APNEA; ARTICLE; BRAIN NECROSIS; CASE REPORT; COMPLEX I DEFICIENCY; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CYANOSIS; DISEASE ASSOCIATION; DISEASE SEVERITY; DYSTONIA; ENTERIC FEEDING; ENZYME ACTIVITY; EXTUBATION; EYE MOVEMENT; FIBROBLAST; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HETEROPLASMY; HOMOPLASY; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; INFANTILE HYPOTONIA; LACTATE BLOOD LEVEL; LEIGH DISEASE; MALE; MITOCHONDRIAL GENE; MUSCLE; MUSCLE BIOPSY; MYOCLONUS EPILEPSY; ND6 GENE; NEUROLOGIC DISEASE; NEUROLOGIC EXAMINATION; NEWBORN; NYSTAGMUS; ONSET AGE; OPTIC NERVE ATROPHY; OXYGEN SATURATION; PHENOTYPE; PRIORITY JOURNAL; PROGENY; RESPIRATORY FAILURE; RESPIRATORY TRACT DISEASE; STOMACH TUBE; STRIATE CORTEX;

DEEP SEQUENCING; HOMOPLASMY; LEIGH DISEASE; MITOCHONDRIAL DISEASE;

ADOLESCENT; CHILD; DNA, MITOCHONDRIAL; FEMALE; HUMANS; INFANT; LEIGH DISEASE; MALE; MUTATION; NADH DEHYDROGENASE; PHENOTYPE;

EID: 84880748308     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36000     Document Type: Article

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