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Article

Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA.

Journal of neurology - 1 May 1995

Mariotti C, Savarese N, Suomalainen A, Rimoldi M, Comi G, Prelle A, Antozzi C, Servidei S, Jarre L, DiDonato S, Zeviani M

Abstract excerpt

We studied 22 subjects carrying the A3243G point mutation of human mitochondrial DNA (mtDNA). In 14 cases the clinical phenotype was characterized by mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), while 8 patients had chronic progressive external ophthalmoplegia (CPEO). The proportion of A3243G heteroplasmy in muscle was determined by two methods; densitometry on a diagnostic...

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PMID: 7643139
DOI: 10.1007/BF00878873

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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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