Compound heterozygous polymerase gamma gene mutation in a patient with alpers disease

Seminars in Pediatric Neurology

Volumn 17, Issue 1, 2010, Pages 62-64

  Cardenas, Javier F ^a   Amato, R Stephen ^a  

^a ST JOSEPH'S HOSPITAL AND MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; DNA DIRECTED DNA POLYMERASE GAMMA; DNA DIRECTED DNA POLYMERASE GAMMA 1; UNCLASSIFIED DRUG;

ALPERS DISEASE; ARTICLE; BASAL GANGLION; BLOOD CLOTTING DISORDER; BRAIN ATROPHY; CASE REPORT; CEREBROSPINAL FLUID; CHILD; CLINICAL FEATURE; ELECTROENCEPHALOGRAM; ELECTRON MICROSCOPY; EPILEPTIC DISCHARGE; EPILEPTIC STATE; FEMALE; FOCAL EPILEPSY; GENE DUPLICATION; GENE MUTATION; GENERALIZED EPILEPSY; GENETIC SCREENING; GRAY MATTER; HETEROZYGOSITY; HUMAN; HYPERTRANSAMINASEMIA; KETOGENIC DIET; LIVER FAILURE; MUSCLE BIOPSY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD;

DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER; DNA-DIRECTED DNA POLYMERASE; FEMALE; HETEROZYGOTE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MUSCLE, SKELETAL; MUTATION;

EID: 77952540309     PISSN: 10719091     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.spen.2010.02.012     Document Type: Article

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