Relative frequency of known causes of multiple mtDNA deletions: Two novel POLG mutations

Neuromuscular Disorders

Volumn 21, Issue 7, 2011, Pages 483-488

  Ferreira, Mariana ^a   Evangelista, Teresinha ^b   Almeida, Lígia S ^a   Martins, João ^c   Macario, Maria Carmo ^d   Martins, Esmeralda ^e   Moleirinho, Ana ^f   Azevedo, Luísa ^f   Vilarinho, Laura ^a   Santorelli, Filippo M ^g  

^a NATIONAL INSTITUTE OF HEALTH   (Portugal)

^b HOSPITAL DE SANTA MARIA   (Portugal)

^c HOSPITAL EGAS MONIZ   (Portugal)

^d CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^e Institute of Biomedical Sciences Abel Salazar   (Portugal)

^f UNIVERSITY OF PORTO   (Portugal)

^g DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

Author keywords

Cancer; Mitochondrial disorders; MtDNA; Multiple deletions; Oxidative metabolism; POLG

Indexed keywords

ARGININE; GLUTAMINE; MITOCHONDRIAL DNA; TRYPTOPHAN;

ADULT; AGED; ALPERS DISEASE; ARTICLE; ATAXIA; CHROMOSOME; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL ARTICLE; CONTROLLED STUDY; DYSPHAGIA; DYSPHONIA; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENETIC CONSERVATION; GENETIC VARIABILITY; HUMAN; MALE; MUSCLE WEAKNESS; MYOPATHY; PARKINSONISM; PERIPHERAL NEUROPATHY; POLG GENE; PRIORITY JOURNAL;

ADULT; AGED; CHILD; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; DNA-DIRECTED DNA POLYMERASE; FEMALE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIA; MITOCHONDRIAL DISEASES; SEQUENCE DELETION;

EID: 79960084401     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.03.011     Document Type: Article

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