Single-fiber PCR in MELAS(3243) patients: correlations between intratissue distribution and phenotypic expression of the mtDNA(A3243G) genotype.

Silvestri, G

Single-fiber PCR in MELAS(3243) patients: correlations between intratissue distribution and phenotypic expression of the mtDNA(A3243G) genotype. [electronic resource] - American journal of medical genetics Sep 2000 - 201-6 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0148-7299

10.1002/1096-8628(20000918)94:3<201::aid-ajmg5>3.0.co;2-2 doi


Adolescent
DNA, Mitochondrial
Dementia--genetics
Electron Transport Complex IV--biosynthesis
Family Health
Female
Genotype
Humans
MELAS Syndrome--genetics
Mass Screening--methods
Middle Aged
Muscle Fibers, Skeletal--enzymology
Muscles--metabolism
Muscular Diseases--genetics
Phenotype
Point Mutation
Polymerase Chain Reaction--methods
Polymorphism, Restriction Fragment Length
Seizures--genetics
Succinate Dehydrogenase--biosynthesis
Tissue Distribution