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, Antonio Barrientos, Wifredo Ricart, Virginia Nunes, Miguel Fernández-Castañer, Y. J. Soler

Research output: Contribution to journalArticle

1 Citation (Scopus)

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.

Original languageSpanish
Pages (from-to)99-101
Number of pages3
JournalMedicina Clinica
Volume112
Issue number3
StatePublished - Jan 30 1999
Externally publishedYes

Fingerprint

Deafness
Mitochondrial DNA
Diabetes Mellitus
RNA, Transfer, Leu
Restriction Mapping
Mutation
Pedigree
Mothers
Polymerase Chain Reaction
Noninsulin-dependent diabetes mellitus with deafness

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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.

Diabetes mellitus asociada a la mutación A3243G del ADN mitocondrial. A propósito de un caso. / Biarnés, Josefina; Barrientos, Antonio; Ricart, Wifredo; Nunes, Virginia; Fernández-Castañer, Miguel; Soler, Y. J.

In: Medicina Clinica, Vol. 112, No. 3, 30.01.1999, p. 99-101.

Research output: Contribution to journalArticle

Biarnés, J, Barrientos, A, Ricart, W, Nunes, V, Fernández-Castañer, M & Soler, YJ 1999, 'Diabetes mellitus asociada a la mutación A3243G del ADN mitocondrial. A propósito de un caso', Medicina Clinica, vol. 112, no. 3, pp. 99-101.
Biarnés J, Barrientos A, Ricart W, Nunes V, Fernández-Castañer M, Soler YJ. Diabetes mellitus asociada a la mutación A3243G del ADN mitocondrial. A propósito de un caso. Medicina Clinica. 1999 Jan 30;112(3):99-101.
Biarnés, Josefina ; Barrientos, Antonio ; Ricart, Wifredo ; Nunes, Virginia ; Fernández-Castañer, Miguel ; Soler, Y. J. / Diabetes mellitus asociada a la mutación A3243G del ADN mitocondrial. A propósito de un caso. In: Medicina Clinica. 1999 ; Vol. 112, No. 3. pp. 99-101.
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