POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

Neurology

Volumn 66, Issue 9, 2006, Pages 1439-1441

  Hudson, G ^a   Deschauer, M ^c   Taylor, R W ^a   Hanna, M G ^d   Fialho, D ^d   Schaefer, A M ^a   He, L P ^a   Blakely, E ^a   Turnbull, D M ^a   Chinnery, P F ^a,b,e  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE NUCLEOTIDE TRANSLOCASE; GENOMIC DNA; HELICASE; MITOCHONDRIAL DNA; MITOCHONDRIAL ENZYME;

AMINO ACID SUBSTITUTION; ANT1 GENE; ARTICLE; C10ORF2 GENE; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; GENE; GENE MUTATION; HUMAN; MITOCHONDRIAL DNA DISORDER; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PHENOTYPE; POLG1 GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTHERN BLOTTING;

ADENINE NUCLEOTIDE TRANSLOCATOR 1; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BLOTTING, SOUTHERN; COHORT STUDIES; COMPUTER SYSTEMS; DNA HELICASES; DNA MUTATIONAL ANALYSIS; DNA PRIMASE; DNA, MITOCHONDRIAL; DNA-DIRECTED DNA POLYMERASE; FALSE NEGATIVE REACTIONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERMANY; GREAT BRITAIN; HUMANS; MALE; MITOCHONDRIAL MYOPATHIES; MOLECULAR SEQUENCE DATA; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ALIGNMENT; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 33646704782     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000210486.32196.24     Document Type: Article

References (10)

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