The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Journal of Neurology

Volumn 261, Issue 3, 2014, Pages 504-510

  Mancuso, Michelangelo ^a   Orsucci, Daniele ^a   Angelini, Corrado ^b,c   Bertini, Enrico ^d   Carelli, Valerio ^e,p   Comi, Giacomo Pietro ^f   Donati, Alice ^o   Minetti, Carlo ^g   Moggio, Maurizio ^f   Mongini, Tiziana ^h   Servidei, Serenella ⁱ   Tonin, Paola ^j   Toscano, Antonio ^k   Uziel, Graziella ^l   Bruno, Claudio ^g   Ienco, Elena Caldarazzo ^a   Filosto, Massimiliano ^m   Lamperti, Costanza ^l   Catteruccia, Michela ^d   Moroni, Isabella ^l   Musumeci, Olimpia ^k   Pegoraro, Elena ^b,c   Ronchi, Dario ^f   Santorelli, Filippo Maria ⁿ   Sauchelli, Donato ⁱ   Scarpelli, Mauro ^j   Sciacco, Monica ^f   Valentino, Maria Lucia ^e,p   Vercelli, Liliana ^h   Zeviani, Massimo ^l   Siciliano, Gabriele ^a   more..

^a UNIVERSITY OF PISA   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c IRCCS SAN CAMILLO HOSPITAL   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA   (Italy)

^f UNIVERSITY OF MILAN   (Italy)

^g UNIVERSITY OF GENOA   (Italy)

^h UNIVERSITY OF TURIN   (Italy)

ⁱ CATHOLIC UNIVERSITY   (Italy)

^j UNIVERSITY OF VERONA   (Italy)

^k UNIVERSITY OF MESSINA   (Italy)

^l DEPARTMENT OF NEUROSURGERY   (Italy)

^m SPEDALI CIVILI   (Italy)

ⁿ DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^o UNIVERSITY OF FLORENCE   (Italy)

^p UNIVERSITY OF BOLOGNA   (Italy)

more..

Author keywords

A3243G; MELAS; MIDD; Mitochondrial DNA; PEO; Stroke like episodes

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; AGED; APOPTOSIS; ARTICLE; ATAXIA; BRAIN DISEASE; CHILD; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL FEATURE; DIABETES MELLITUS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EPILEPTIC STATE; FAILURE TO THRIVE; FEMALE; GASTROINTESTINAL MOTILITY DISORDER; GENE MUTATION; HEARING IMPAIRMENT; HEART DISEASE; HUMAN; HYPOGONADISM; HYPOTHYROIDISM; LACTIC ACIDOSIS; MAJOR CLINICAL STUDY; MALE; MELAS SYNDROME; MIDDLE AGED; MIGRAINE; MITOCHONDRIAL GENOME; MUSCLE ATROPHY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MYALGIA; MYOCLONUS; NEUROPATHY; OPTIC NERVE DISEASE; PERIPHERAL NEUROPATHY; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PYRAMIDAL SIGN; RETINOPATHY; RISK FACTOR; SCHOOL CHILD; SEX DIFFERENCE; TONIC CLONIC SEIZURE; YOUNG ADULT; ADOLESCENT; CLASSIFICATION; GENETIC DATABASE; GENETICS; GENOTYPE; HETEROZYGOTE; INFANT; ITALY; MITOCHONDRIAL ENCEPHALOMYOPATHY; MUTATION; PATHOPHYSIOLOGY; RETROSPECTIVE STUDY;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; DATABASES, GENETIC; DNA, MITOCHONDRIAL; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; INFANT; ITALY; MALE; MELAS SYNDROME; MIDDLE AGED; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION; PHENOTYPE; RETROSPECTIVE STUDIES; SEX FACTORS; YOUNG ADULT;

EID: 84896488744     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-013-7225-3     Document Type: Article

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