The mitochondrial A3243G mutation presenting as severe cardiomyopathy

Journal of Medical Genetics

Volumn 34, Issue 7, 1997, Pages 607-609

  Vilarinho, Laura ^a,b   Santorelli, Filippo M ^b   Rosas, Maria J ^c   Tavares, Cláudia ^c   Melo Pires, Manuel ^d   DiMauro, Salvatore ^b  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b Columbia University ^*  (United States)

^c Hospital da Senhora de Oliveira   (Portugal)

^d HOSPITAL DE SANTO ANTÓNIO   (Portugal)

Author keywords

A3243G; Cardiomyopathy; Mitochondrial DNA

Indexed keywords

LEUCINE TRANSFER RNA; MITOCHONDRIAL DNA;

ARTICLE; BLOOD; CASE REPORT; CHILD; FEMALE; HEART DILATATION; HUMAN; HUMAN CELL; HUMAN TISSUE; LACTIC ACIDOSIS; MALE; MELAS SYNDROME; MUSCLE; MUSCLE DISEASE; NUCLEIC ACID BASE SUBSTITUTION; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA GENE;

RAPHIA FRATER;

EID: 0030745837     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.7.607     Document Type: Article

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