Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA

Neuromuscular Disorders

Volumn 12, Issue 9, 2002, Pages 865-868

  Karadimas, Charalampos L ^a   Salviati, Leonardo ^a,b   Sacconi, Sabrina ^a,c   Chronopoulou, Penelope ^a   Shanske, Sara ^a   Bonilla, Eduardo ^a   De Vivo, Darryl C ^a   DiMauro, Salvatore ^a  

^a New York Presbyterian Columbia University Medical Center   (United States)

^b UNIVERSITY OF PADOVA   (Italy)

^c UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

Heteroplasmy; Mitochondrial DNA; Progressive external ophthalmoplegia; tRNALeu(CUN)

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ARTICLE; CASE REPORT; EXTERNAL OPHTHALMOPLEGIA; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; MITOCHONDRIAL MYOPATHY; MUSCLE WEAKNESS; PRIORITY JOURNAL;

ADULT; ALLELES; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; GLYCINE; HUMANS; MITOCHONDRIAL MYOPATHIES; MUSCLE, SKELETAL; OPHTHALMOPLEGIA; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RNA, TRANSFER; RNA, TRANSFER, LEU;

EID: 0036837220     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(02)00072-X     Document Type: Article

References (13)

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