A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy

Clinical Neuropathology

Volumn 28, Issue 2, 2009, Pages 143-149

  Mobley, Bret C ^a   Enns, G M ^a   Wong, L J ^b   Vogel, H ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Fatal infantile cardioencephalomyopathy; Mitochondrial disease; SCO2

Indexed keywords

CYTOCHROME C OXIDASE; GLYCINE; LORAZEPAM; SERINE; SURVIVAL MOTOR NEURON PROTEIN; SYNTHESIS OF CYTOCHROME C OXIDASE 2; UNCLASSIFIED DRUG; CARRIER PROTEIN; COX10 PROTEIN, HUMAN; MEMBRANE PROTEIN; MITOCHONDRIAL PROTEIN; SCO1 PROTEIN, HUMAN; SCO2 PROTEIN, HUMAN; SURF 1 PROTEIN; SURF-1 PROTEIN; TRANSFERASE;

ARTICLE; BRAIN DISEASE; CARDIOMYOPATHY; CASE REPORT; CONSANGUINITY; ELECTROENCEPHALOGRAM; ENCEPHALOMYOPATHY; FATAL INFANTILE CARDIOENCEPHALOMYOPATHY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INDIA; INFANT; MALE; METABOLIC ACIDOSIS; MUSCLE BIOPSY; MUSCLE HYPOTONIA; PRIORITY JOURNAL; RESPIRATORY CHAIN; RESPIRATORY DISTRESS; SEIZURE; SKIN FIBROBLAST; ELECTRON TRANSPORT; FATALITY; GENETICS; MITOCHONDRIAL ENCEPHALOMYOPATHY; MOLECULAR GENETICS; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; SEQUENCE HOMOLOGY; SKELETAL MUSCLE;

ALKYL AND ARYL TRANSFERASES; BASE SEQUENCE; CARDIOMYOPATHIES; CARRIER PROTEINS; CONSANGUINITY; ELECTRON TRANSPORT; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; PEDIGREE; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 65349085617     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: 10.5414/npp28143     Document Type: Article

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