A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy

Journal of the Neurological Sciences

Volumn 164, Issue 2, 1999, Pages 153-157

  Hadjigeorgiou, G M ^a   Kim, S H ^a,b   Fischbeck, K H ^c   Andreu, A L ^a,d   Berry, G T ^c   Bingham, P ^c   Shanske, S ^a   Bonilla, E ^a   Dimauro, S ^a  

^a H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases   (United States)

^b Daegu University   (South Korea)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

Mitochondrial DNA; Mitochondrial myopathy; tRNA(Leu(UUR)) mutation

Indexed keywords

CREATINE KINASE; LEUCINE TRANSFER RNA; MITOCHONDRIAL DNA;

ARTICLE; BREATHING MUSCLE; CONTROLLED STUDY; FAMILIAL DISEASE; GENE MUTATION; HUMAN; LEG MUSCLE; MITOCHONDRIAL MYOPATHY; MUSCLE CRAMP; MUSCLE WEAKNESS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RNA GENE;

ADULT; BASE SEQUENCE; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL MYOPATHIES; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RNA, TRANSFER, LEU;

EID: 0033120859     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(99)00062-3     Document Type: Article

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