A novel mutation in COQ2 leading to fatal infantile multisystem disease

Journal of the Neurological Sciences

Volumn 326, Issue 1-2, 2013, Pages 24-28

  Jakobs, Bernadette S ^a   Van Den Heuvel, Lambert P ^b   Smeets, Roel J P ^b   De Vries, Maaike C ^b   Hien, Steffen ^c   Schaible, Thomas ^c   Smeitink, Jan A M ^b   Wevers, Ron A ^b   Wortmann, Saskia B ^b   Rodenburg, Richard J T ^b  

^a CPRLab   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

COQ2; CoQ10 deficiency; Epilepsy; Mitochondrial disease; Oxidative phosphorylation; Renal disease

Indexed keywords

CYTOCHROME C OXIDASE; UBIQUINONE;

AMINO ACID ANALYSIS; APNEA; ARTICLE; ARTIFICIAL VENTILATION; BRAIN HEMORRHAGE; CASE REPORT; CITRIC ACID CYCLE; COMPLEX I DEFICIENCY; DEATH; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DIZYGOTIC TWINS; ELECTROCHEMICAL ANALYSIS; FEMALE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HISTOPATHOLOGY; HOMOZYGOTE; HUMAN; INFANT DISEASE; MALE; MULTIPLE ORGAN FAILURE; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; NEPHROTIC SYNDROME; NUCLEOTIDE SEQUENCE; OLIGOHYDRAMNIOS; OPTIC NERVE ATROPHY; OXIDATIVE PHOSPHORYLATION; POLYMERASE CHAIN REACTION; PREMATURITY; PRIORITY JOURNAL; SEIZURE; SEQUENCE ANALYSIS; SKELETAL MUSCLE; UBIQUINONE DEFICIENCY; URINARY EXCRETION;

ALKYL AND ARYL TRANSFERASES; AMINO ACID SEQUENCE; DISEASES IN TWINS; FATAL OUTCOME; FEMALE; HOMOZYGOTE; HUMANS; INFANT; MALE; METABOLIC DISEASES; MOLECULAR SEQUENCE DATA; MULTIPLE ORGAN FAILURE; MUTATION;

EID: 84875476544     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2013.01.004     Document Type: Article

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