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. 1995 Aug;32(8):654–656. doi: 10.1136/jmg.32.8.654

Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness.

S Manouvrier 1, A Rötig 1, G Hannebique 1, J D Gheerbrandt 1, G Royer-Legrain 1, A Munnich 1, M Parent 1, J P Grünfeld 1, C Largilliere 1, A Lombes 1, et al.
PMCID: PMC1051645  PMID: 7473662

Abstract

The A 3243 G mutation of the mitochondrial tRNA(Leu) gene was found to segregate with maternally inherited diabetes mellitus, sensorineural deafness, hypertrophic cardiomyopathy, or renal failure in a large pedigree of 35 affected members in four generations. Presenting symptoms almost consistently involved deafness and recurrent attacks of migraine-like headaches, but the clinical course of the disease varied within and across generations. The A 3243 G mutation has been previously reported in association with the mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode syndrome (MELAS) and with diabetes mellitus and deafness. To our knowledge, however, hypertrophic cardiomyopathy is not a common feature in people with the A 3243 G mutation and renal failure has not been hitherto reported in association with this mutation. The present observation gives additional support to the variable clinical expression of mtDNA mutations in humans.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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