Maternally inherited diabetes and deafness with cerebellar ataxia: a new clinical phenotype associated with the mitochondrial DNA 3243 mutation

1997 ◽  
Vol 244 (7) ◽  
pp. 468-469 ◽  
Author(s):  
M. Arai ◽  
Shin-ichi Ohshima
Keyword(s):  
Mitochondrial Dna ◽  
Cerebellar Ataxia ◽  
Clinical Phenotype ◽  
Inherited Diabetes

scholarly journals Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness

2008 ◽  
Vol 52 (8) ◽  
pp. 1228-1235 ◽  
Author(s):  
Daisy Crispim ◽  
Aline A. F. Estivalet ◽  
Israel Roisenberg ◽  
Jorge L. Gross ◽  
Luis H. Canani
Keyword(s):  
Type 2 Diabetes ◽  
Mitochondrial Dna ◽  
Classical Type ◽  
Diabetic Patients ◽  
Type 2 Diabetic Patients ◽  
Diabetes Group ◽  
Mtdna Mutations ◽  
Type 2 Diabetic ◽  
Inherited Diabetes

The aim of the present study is to investigate the prevalence of ten described mitochondrial DNA (mtDNA) mutations in patients with type 2 diabetes, and search for new mutations in four mtDNA genes in a subgroup of patients with characteristics of maternally inherited diabetes and deafness (MIDD). These mutations were investigated in 407 type 2 diabetic patients without characteristics of mitochondrial diabetes ("classical" type 2 diabetes group) and in 38 type 2 diabetic patients with characteristics suggestive of MIDD. Through sequencing of four mtDNA genes in MIDD patients, we selected five others potentially pathogenic mutations that were also screened in the remaining patients. Overall, the frequency of the fifteen analyzed mutations was 36.84% in the MIDD group and 2.45% in the "classical" type 2 diabetes group (p < 0.001). In conclusion, our study reinforces the importance of mtDNA mutations in the pathogenesis of MIDD.

Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies

2002 ◽  
Vol 9 (6) ◽  
pp. 527-533 ◽  
Author(s):  
Chin-Chang Huang ◽  
Hung-Chou Kuo ◽  
Chen-Che Chu ◽  
Chia-Wei Liou ◽  
Yi-Shing Ma ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Clinical Phenotype ◽  
Mutation Load ◽  
Mitochondrial Dna Mutation ◽  
Mitochondrial Encephalomyopathies ◽  
Dna Mutation

scholarly journals Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes

PLoS ONE ◽  
2017 ◽  
Vol 12 (11) ◽  
pp. e0188610 ◽  
Author(s):  
Bekim Sadikovic ◽  
Jing Wang ◽  
Ayman W. El-Hattab ◽  
Megan Landsverk ◽  
Ganka Douglas ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Sequence Homology ◽  
Clinical Phenotype ◽  
Mitochondrial Dna Deletion ◽  
Dna Deletion ◽  
Deletion Syndromes

scholarly journals A Novel Unstable Mutation in Mitochondrial DNA Responsible for Maternally Inherited Diabetes and Deafness

Diabetes Care ◽  
2011 ◽  
Vol 34 (12) ◽  
pp. 2591-2593 ◽  
Author(s):  
S. Bannwarth ◽  
M. Abbassi ◽  
R. Valero ◽  
K. Fragaki ◽  
N. Dubois ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Unstable Mutation ◽  
Inherited Diabetes
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