Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

Neurology

Volumn 80, Issue 22, 2013, Pages 2049-2054

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

^a UNIVERSITY OF PISA   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d UNIVERSITY OF BOLOGNA   (Italy)

^e UNIVERSITY OF MILAN   (Italy)

^f UNIVERSITY OF GENOA   (Italy)

^g UNIVERSITY OF TURIN   (Italy)

^h CATHOLIC UNIVERSITY   (Italy)

ⁱ UNIVERSITY OF VERONA   (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)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; AGED; ARTICLE; ATAXIA; CARDIOMYOPATHY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; DATA BASE; DIABETES MELLITUS; DISEASE COURSE; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; HEARING IMPAIRMENT; HETEROPLASMY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LIPOMATOSIS; MALE; MERRF SYNDROME; MIGRAINE; MUSCLE ATROPHY; MUSCLE WEAKNESS; MYALGIA; MYOCLONUS; NEUROPATHY; OPHTHALMOPLEGIA; OPTIC NERVE ATROPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; SCHOOL CHILD; TONIC CLONIC SEIZURE; TREMOR;

ADULT; AGE OF ONSET; DATABASES, GENETIC; DISEASE PROGRESSION; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MERRF SYNDROME; MIDDLE AGED; MUTATION; PHENOTYPE; RETROSPECTIVE STUDIES;

EID: 84879495511     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318294b44c     Document Type: Article

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