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Family Phenotypic Heterogeneity Caused by Mitochondrial DNA Mutation A3243G

Alves, Daniela; Calmeiro, Maria Eufémia; Macário, Carmo; Silva, Rosa

Maternally inherited diabetes and deafness is a rare form of diabetes caused by a mitochondrial DNA mutation. The index case is a 55-year-old woman who was admitted with hypertrophic cardiomyopathy. She had a history of diabetes mellitus and hearing loss. The patient’s mother, two brothers and two sisters also had a history of diabetes and hearing loss. This pattern suggests a maternally inherited disorder. All...

Date: 2017   |   Origin: Acta Médica Portuguesa
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