The mitochondrial A3243G mutation presenting as severe cardiomyopathy

Laura Vilarinho; Filippo M. Santorelli; Maria J. Rosas; Cláudia Tavares; Manuel Melo-Pires; Salvatore DiMauro

The mitochondrial A3243G mutation presenting as severe cardiomyopathy

Laura Vilarinho, Filippo M. Santorelli, Maria J. Rosas, Cláudia Tavares, Manuel Melo-Pires, Salvatore DiMauro

Fondazione Stella Maris

Research output: Contribution to journal › Article › peer-review

Abstract

A 6 year old Portuguese boy with dilated cardiomyopathy had abundant ragged red fibres in muscle (20% of total) and severe lactic acidosis. Molecular genetic analysis showed the A to G transition in the mitochondrial transfer RNA(Leu(UUR)) gene at nt 3243 ('MELAS mutation'), which accounted for 88% and 68% of the total mtDNA in his muscle and blood, respectively. Molecular studies in blood from 16 maternal relatives identified lower percentages of the mutation only in the oligosymptomatic mother and brother. This case reinforces the notion that cardiomyopathy can be the presenting and predominant clinical expression of the A3243G mutation.

Original language	English
Pages (from-to)	607-609
Number of pages	3
Journal	Journal of Medical Genetics
Volume	34
Issue number	7
Publication status	Published - 1997

Keywords

A3243G
Cardiomyopathy
Mitochondrial DNA

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "The mitochondrial A3243G mutation presenting as severe cardiomyopathy",

abstract = "A 6 year old Portuguese boy with dilated cardiomyopathy had abundant ragged red fibres in muscle (20% of total) and severe lactic acidosis. Molecular genetic analysis showed the A to G transition in the mitochondrial transfer RNA(Leu(UUR)) gene at nt 3243 ('MELAS mutation'), which accounted for 88% and 68% of the total mtDNA in his muscle and blood, respectively. Molecular studies in blood from 16 maternal relatives identified lower percentages of the mutation only in the oligosymptomatic mother and brother. This case reinforces the notion that cardiomyopathy can be the presenting and predominant clinical expression of the A3243G mutation.",

keywords = "A3243G, Cardiomyopathy, Mitochondrial DNA",

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T1 - The mitochondrial A3243G mutation presenting as severe cardiomyopathy

AU - Vilarinho, Laura

AU - Santorelli, Filippo M.

AU - Rosas, Maria J.

AU - Tavares, Cláudia

AU - Melo-Pires, Manuel

AU - DiMauro, Salvatore

PY - 1997

Y1 - 1997

N2 - A 6 year old Portuguese boy with dilated cardiomyopathy had abundant ragged red fibres in muscle (20% of total) and severe lactic acidosis. Molecular genetic analysis showed the A to G transition in the mitochondrial transfer RNA(Leu(UUR)) gene at nt 3243 ('MELAS mutation'), which accounted for 88% and 68% of the total mtDNA in his muscle and blood, respectively. Molecular studies in blood from 16 maternal relatives identified lower percentages of the mutation only in the oligosymptomatic mother and brother. This case reinforces the notion that cardiomyopathy can be the presenting and predominant clinical expression of the A3243G mutation.

AB - A 6 year old Portuguese boy with dilated cardiomyopathy had abundant ragged red fibres in muscle (20% of total) and severe lactic acidosis. Molecular genetic analysis showed the A to G transition in the mitochondrial transfer RNA(Leu(UUR)) gene at nt 3243 ('MELAS mutation'), which accounted for 88% and 68% of the total mtDNA in his muscle and blood, respectively. Molecular studies in blood from 16 maternal relatives identified lower percentages of the mutation only in the oligosymptomatic mother and brother. This case reinforces the notion that cardiomyopathy can be the presenting and predominant clinical expression of the A3243G mutation.

KW - A3243G

KW - Cardiomyopathy

KW - Mitochondrial DNA

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