Digenic progressive external ophthalmoplegia in a sporadic patient: Recessive mutations in POLG and C10orf2/twinkle [2]

Human Mutation

Volumn 22, Issue 2, 2003, Pages 175-176

  Van Goethem, Gert ^a,b   Löfgren, Ann ^a   Dermaut, Bart ^a   Ceuterick, Chantal ^c   Martin, Jean Jacques ^b,c   Van Broeckhoven, Christine ^a,c  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CATALYSIS; CLINICAL FEATURE; DIAGNOSTIC TEST; DISEASE COURSE; DISEASE SEVERITY; DNA DETERMINATION; EXTERNAL OPHTHALMOPLEGIA; FAMILY HISTORY; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; HETEROZYGOSITY; HISTOCHEMISTRY; HUMAN; LETTER; MITOCHONDRION; NEUROLOGIC EXAMINATION; ONSET AGE; PATIENT; PHENOTYPE; PRIORITY JOURNAL;

ANIMALS; DNA HELICASES; DNA PRIMASE; DNA, MITOCHONDRIAL; DNA-DIRECTED DNA POLYMERASE; DROSOPHILA PROTEINS; FEMALE; GENES, RECESSIVE; HUMANS; MICE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MUTATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; SEQUENCE DELETION;

EID: 0043033148     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10246     Document Type: Letter

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