Maternally Inherited Diabetes and Deafness in 4 Family Members with DNA Mutation and at Least 4 Generations with Suggestive Disease Phenotype
Author:
Affiliation:
1. Clinical Analysis Service, University Hospital Complex of Huelva, Huelva, Spain
Publisher
Oxford University Press (OUP)
Subject
General Medicine
Link
https://academic.oup.com/jalm/article-pdf/2/2/278/42353451/2_2_2_278.pdf
Reference10 articles.
1. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes: prevalence of the mutation in an adult population;Majamaa;Am J Hum Genet,1998
2. Pearls and oy-sters: maternally inherited diabetes and deafness presenting with ptosis and macular pattern dystrophy;Ogun;Neurology,2012
3. Frequency and clinical features of patients with sensorineural hearing loss associated with the A3243G mutation of the mitochondrial DNA in otorhinolaryngic clinics;Nagata;J Hum Genet,2001
4. Decrease of 3243 A→G mtDNA mutation from blood in MELAS syndrome: a longitudinal study;Rahman;Am J Hum Genet,2001
5. Mitochondrial DNA and disease;Flier;N Engl J Med,1995
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