Maternally Inherited Diabetes And Deafness
Last Posted: Oct 22, 2015
- Analysis of association among clinical features and shorter leukocyte telomere length in mitochondrial diabetes with m.3243A>G mitochondrial DNA mutation.
Zhou Mei-Cen, et al. BMC medical genetics 2015 0 (1) 92
- The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?
Mancuso Michelangelo, et al. Journal of neurology 2014 3 (3) 504-10
- Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.
Ellard S, et al. Diabetologia 2013 9 (9) 1958-63
- Maternally inherited diabetes and deafness
From NCATS Genetic and Rare Diseases Information Center
- High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects.
Frederiksen Anja Lisbeth, et al. The Journal of clinical endocrinology and metabolism 2009 8 (8) 2872-9
- Prevalence and clinical characteristics of maternally inherited diabetes and deafness caused by the mt3243A > G mutation in young adult diabetic subjects in Sri Lanka.
Katulanda P, et al. Diabetic medicine : a journal of the British Diabetic Association 2008 3 (3) 370-4
- Rapid and sensitive real-time polymerase chain reaction method for detection and quantification of 3243A>G mitochondrial point mutation.
Singh Rinki, et al. The Journal of molecular diagnostics : JMD 2006 5 (2) 225-30
- Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD).
Guillausseau P J, et al. Diabetes & metabolism 2004 4 (2) 181-6
- The G1888A variant in the mitochondrial 16S rRNA gene may be associated with Type 2 diabetes in Caucasian-Brazilian patients from southern Brazil.
Crispim D, et al. Diabetic medicine : a journal of the British Diabetic Association 2005 12 (12) 1683-9
- Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome.
Choo-Kang Alan T W, et al. Diabetes 2002 7 (7) 2317-20
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.