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 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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ASJC Scopus subject areas
- Medicine(all)
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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 journal › Article
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TY - JOUR
T1 - Diabetes mellitus asociada a la mutación A3243G del ADN mitocondrial. A propósito de un caso
AU - Biarnés, Josefina
AU - Barrientos, Antonio
AU - Ricart, Wifredo
AU - Nunes, Virginia
AU - Fernández-Castañer, Miguel
AU - Soler, Y. J.
PY - 1999/1/30
Y1 - 1999/1/30
N2 - 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.
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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UR - http://www.scopus.com/inward/citedby.url?scp=0039966814&partnerID=8YFLogxK
M3 - Article
VL - 112
SP - 99
EP - 101
JO - Medicina Clinica
JF - Medicina Clinica
SN - 0025-7753
IS - 3
ER -