Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: Unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification

NeuroMolecular Medicine

Volumn 3, Issue 3, 2003, Pages 129-146

  Van Goethem, Gert ^a,b   Martin, Jean Jacques ^b,c   Van Broeckhoven, Christine ^a  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

Adenine nucleotide translocator 1; Mitochondrial DNA; Nucleotides; Polymerase gamma; Progressive external ophthalmoplegia; Thymidine phosphorylase; Twinkle

Indexed keywords

ADENINE NUCLEOTIDE TRANSLOCASE; DNA DIRECTED DNA POLYMERASE GAMMA; GENE PRODUCT; MITOCHONDRIAL DNA; THYMIDINE PHOSPHORYLASE; TRANSFER RNA; TWINKLE PROTEIN; UNCLASSIFIED DRUG;

ANT1 GENE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; C10ORF2 GENE; CHROMOSOME 10Q; CHROMOSOME 17Q; CLINICAL FEATURE; DISEASE CLASSIFICATION; DNA REPLICATION; EXTERNAL OPHTHALMOPLEGIA; EXTRAOCULAR MUSCLE; FAMILY STUDY; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; MITOCHONDRION; MOLECULAR GENETICS; MUSCLE WEAKNESS; MYOPATHY; NONHUMAN; ONSET AGE; OPHTHALMOPLEGIA; OXIDATIVE PHOSPHORYLATION; PEDIGREE ANALYSIS; PHENOTYPE; POLG GENE; PRIORITY JOURNAL; PTOSIS; RETINOPATHY; REVIEW;

ANIMALS; CELL RESPIRATION; DNA REPLICATION; DNA, MITOCHONDRIAL; GENE DELETION; HUMANS; MUTATION; NUCLEOTIDES; OCULOMOTOR MUSCLES; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL;

EID: 0042326378     PISSN: 15351084     EISSN: None     Source Type: Journal    
DOI: 10.1385/NMM:3:3:129     Document Type: Review

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