“Myo-cardiomyopathy” is commonly associated with the A8344G “MERRF” mutation

Journal of Neurology

Volumn 262, Issue 3, 2015, Pages 701-710

  Catteruccia, Michela ^a,b   Sauchelli, Donato ^a   Della Marca, Giacomo ^a   Primiano, Guido ^a   Cuccagna, Cristina ^a   Bernardo, Daniela ^a   Leo, Milena ^a   Camporeale, Antonella ^a   Sanna, Tommaso ^a   Cianfoni, Alessandro ^c   Servidei, Serenella ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c REGIONAL HOSPITAL OF LUGANO   (Switzerland)

Author keywords

Cardiomyopathy; MERRF syndrome; Mitochondrial encephalomyopathies; Respiratory insufficiency

Indexed keywords

CHOLINE; LACTIC ACID; MITOCHONDRIAL DNA; N ACETYLASPARTIC ACID; ASPARTIC ACID; N-ACETYLASPARTATE;

ADOLESCENT; ADULT; ARTICLE; ATAXIA; BREATHING MUSCLE; CARDIOMYOPATHY; CARDIOVASCULAR MAGNETIC RESONANCE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; EPILEPSY; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; IMPLANTABLE CARDIOVERTER DEFIBRILLATOR; LACTIC ACIDOSIS; MALE; MERRF SYNDROME; MUSCLE WEAKNESS; MYOCLONUS; MYOPATHY; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY FAILURE; SPECTROSCOPY; AGED; ANALOGS AND DERIVATIVES; BRAIN; COMPLICATION; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; SKELETAL MUSCLE;

ADOLESCENT; ADULT; AGED; ASPARTIC ACID; BRAIN; CARDIOMYOPATHIES; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MERRF SYNDROME; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION; SPECTRUM ANALYSIS;

EID: 84925541109     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-014-7632-0     Document Type: Article

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