Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability

American Journal of Human Genetics

Volumn 92, Issue 2, 2013, Pages 293-300

  Ronchi, Dario ^a   Di Fonzo, Alessio ^a   Lin, Weiqiang ^b   Bordoni, Andreina ^a   Liu, Changwei ^b   Fassone, Elisa ^c   Pagliarani, Serena ^a   Rizzuti, Mafalda ^a   Zheng, Li ^b   Filosto, Massimiliano ^d   Ferrò, Maria Teresa ^e   Ranieri, Michela ^a   Magri, Francesca ^a   Peverelli, Lorenzo ^a   Li, Hongzhi ^b   Yuan, Yate Ching ^b   Corti, Stefania ^a   Sciacco, Monica ^a   Moggio, Maurizio ^a   Bresolin, Nereo ^a,f   Shen, Binghui ^b   Comi, Giacomo Pietro ^a   more..

^a UNIVERSITY OF MILAN   (Italy)

^b CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d SPEDALI CIVILI   (Italy)

^e MAGGIORE HOSPITAL   (Italy)

^f Istituto di Ricerca e Cura A Carattere Scientifico Eugenio Medea   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; AMFEBUTAMONE; BROMAZEPAM; CREATINE KINASE; HELICASE; MITOCHONDRIAL DNA; NUCLEASE; THIAMAZOLE; VALPROIC ACID;

ADULT; ARTICLE; CASE REPORT; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; ELECTROMYOGRAPHY; ENZYME ACTIVITY; EXCISION REPAIR; EXOME; FEMALE; GENETIC VARIABILITY; GENOMIC INSTABILITY; HUMAN; HYPERTHYROIDISM; IN VITRO STUDY; LIMB WEAKNESS; MAJOR DEPRESSION; MALE; MITOCHONDRIAL DNA REPLICATION; MITOCHONDRIAL MYOPATHY; MUSCLE CRAMP; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PUERPERAL DEPRESSION; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CONSERVED SEQUENCE; DNA HELICASES; DNA, MITOCHONDRIAL; FEMALE; GENOMIC INSTABILITY; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL MYOPATHIES; MOLECULAR SEQUENCE DATA; MUSCLES; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84873713785     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.12.014     Document Type: Article

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