Diabetes mellitus asociada a la mutación A3243G del ADN mitocondrial. A propósito de un caso

Josefina Biarnés; Antoni Barrientos; Wifredo Ricart; Virginia Nunes; Miguel Fernández-Castañer; Y. J. Soler

Diabetes mellitus asociada a la mutación A3243G del ADN mitocondrial. A propósito de un caso

Translated title of the contribution: Diabetes mellitus associated with the A3243G mutation of mitochondrial DNA. Description of one case

Josefina Biarnés, Antoni Barrientos, Wifredo Ricart, Virginia Nunes, Miguel Fernández-Castañer, Y. J. Soler

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Abstract

The mitochondrial A3243G mutation of the tRNA^Leu has been described in pedigrees with maternally inherited diabetes mellitus and deafness. Ten diabetic patients with sensorineural deafness were studied. Polymerase chain reaction and enzyme restriction analysis with Apa I were performed. The mutation was found in heteroplasmy in only one patient (1/10). She was a 43 years-old woman with maternally inherited diabetes and deafness since she was 29. The association of sensorineural deafness and maternal inherited diabetes are the clues to suspect this subtype of diabetes.

Original language	Spanish
Pages (from-to)	99-101
Number of pages	3
Journal	Medicina Clinica
Volume	112
Issue number	3
State	Published - Jan 30 1999
Externally published	Yes

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Biarnés, J., Barrientos, A., Ricart, W., Nunes, V., Fernández-Castañer, M., & Soler, Y. J. (1999). Diabetes mellitus asociada a la mutación A3243G del ADN mitocondrial. A propósito de un caso. Medicina Clinica, 112(3), 99-101.

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abstract = "The mitochondrial A3243G mutation of the tRNALeu has been described in pedigrees with maternally inherited diabetes mellitus and deafness. Ten diabetic patients with sensorineural deafness were studied. Polymerase chain reaction and enzyme restriction analysis with Apa I were performed. The mutation was found in heteroplasmy in only one patient (1/10). She was a 43 years-old woman with maternally inherited diabetes and deafness since she was 29. The association of sensorineural deafness and maternal inherited diabetes are the clues to suspect this subtype of diabetes.",

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AU - Biarnés, Josefina

AU - Barrientos, Antoni

AU - Ricart, Wifredo

AU - Nunes, Virginia

AU - Fernández-Castañer, Miguel

AU - Soler, Y. J.

PY - 1999/1/30

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AB - The mitochondrial A3243G mutation of the tRNALeu has been described in pedigrees with maternally inherited diabetes mellitus and deafness. Ten diabetic patients with sensorineural deafness were studied. Polymerase chain reaction and enzyme restriction analysis with Apa I were performed. The mutation was found in heteroplasmy in only one patient (1/10). She was a 43 years-old woman with maternally inherited diabetes and deafness since she was 29. The association of sensorineural deafness and maternal inherited diabetes are the clues to suspect this subtype of diabetes.

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Diabetes mellitus asociada a la mutación A3243G del ADN mitocondrial. A propósito de un caso

Abstract

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