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Article

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

American journal of medical genetics - 18 Sept 2000

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

Abstract excerpt

We performed morphological, biochemical, and genetic studies, including single-fiber PCR (sf PCR), on muscle biopsies obtained from a mother and daughter with MELAS syndrome due to the A3243G transition of mitochondrial DNA (mtDNA). The severity of muscle involvement appeared quite distinct, in spite of the fact that both patients segregated similar mutant mtDNA levels on total muscle DNA. The daughter did not...

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PMID: 10995506
DOI: 10.1002/1096-8628(20000918)94:3<201::aid-ajmg5>3.0.co;2-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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