Single-fiber PRC in MELAS3243 patients: Correlations between intratissue distribution and phenotypic expression of the mtDNA(A3243G) genotype

American Journal of Medical Genetics

Volumn 94, Issue 3, 2000, Pages 201-206

  Silvestri, G ^a   Rana, M ^a   Odoardi, F ^a   Modoni, A ^a   Paris, E ^a   Papacci, M ^a   Tonali, P ^a   Servidei, S ^a  

^a CATHOLIC UNIVERSITY   (Italy)

Author keywords

MELAS; mtDNA; Single fiber PCR; tRNA(Leu(UUR))

Indexed keywords

CELL NUCLEUS DNA; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; TRANSFER RNA; SUCCINATE DEHYDROGENASE;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CORRELATION FUNCTION; EMBRYO DEVELOPMENT; ENZYME ACTIVITY; EXTERNAL OPHTHALMOPLEGIA; FEMALE; GENOTYPE; HEREDITY; HUMAN; MELAS SYNDROME; MUSCLE BIOPSY; MYOPATHY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; ADOLESCENT; BIOSYNTHESIS; DEMENTIA; ENZYMOLOGY; FAMILY HEALTH; GENETICS; MASS SCREENING; METABOLISM; METHODOLOGY; MIDDLE AGED; MUSCLE; MUSCLE CELL; MUSCLE DISEASE; PATHOLOGY; POINT MUTATION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEIZURE; TISSUE DISTRIBUTION;

ADOLESCENT; DEMENTIA; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; FAMILY HEALTH; FEMALE; GENOTYPE; HUMANS; MASS SCREENING; MELAS SYNDROME; MIDDLE AGED; MUSCLE FIBERS; MUSCLES; MUSCULAR DISEASES; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEIZURES; SUCCINATE DEHYDROGENASE; TISSUE DISTRIBUTION;

EID: 0034683245     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20000918)94:3<201::AID-AJMG5>3.0.CO;2-2     Document Type: Article

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