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Article

Correlation between clinical and molecular features in two MELAS families.

Journal of the neurological sciences - 1 Dec 1992

Martinuzzi A, Bartolomei L, Carrozzo R, Mostacciuolo M, Carbonin C, Toso V, Ciafaloni E, Shanske S, DiMauro S, Angelini C

Abstract excerpt

We describe the clinical, morphological, biochemical presentation in two MELAS families, and correlate it with the distribution and proportion of mitochondrial DNA carrying the A to G transition at nt 3243. Family A was characterized by late onset MELAS in two members, CPEO in one, and mild CNS involvement in another. 20-61% of mtDNA of affected and unaffected individuals was mutated in muscle, 2-18% in blood....

Topics

Adult
Female
Humans
MELAS Syndrome
Magnetic Resonance Imaging
Male
Middle Aged
Muscles
Mutation
Pedigree
Phenotype
RNA, Transfer, Leu

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Tomography, X-Ray Computed

Source

Identifiers

PMID: 1487758
DOI: 10.1016/0022-510x(92)90250-o

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1487758-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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