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Family Phenotypic Heterogeneity Caused by Mitochondrial DNA Mutation A3243G

Overview of attention for article published in Acta Medica Portuguesa, August 2017
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Title
Family Phenotypic Heterogeneity Caused by Mitochondrial DNA Mutation A3243G
Published in
Acta Medica Portuguesa, August 2017
DOI 10.20344/amp.8638
Pubmed ID
Authors

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

Abstract

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 siblings carried the A3243G mitochondrial DNA mutation. The identification of people with monogenic forms of diabetes mellitus is a diagnostic challenge. This condition should be considered whenever there is a history of diabetes associated with hearing loss and a relevant family history. Cardiopathy is also known to be an important feature of mitochondrial disease. In order to identify this aetiology, family screening, genetic counselling and screening of associated comorbidities are encouraged.

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The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 24 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 24 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 3 13%
Researcher 2 8%
Student > Bachelor 2 8%
Lecturer > Senior Lecturer 1 4%
Student > Doctoral Student 1 4%
Other 3 13%
Unknown 12 50%
Readers by discipline Count As %
Nursing and Health Professions 3 13%
Biochemistry, Genetics and Molecular Biology 2 8%
Neuroscience 2 8%
Unspecified 1 4%
Immunology and Microbiology 1 4%
Other 3 13%
Unknown 12 50%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 20 September 2017.
All research outputs
#19,951,180
of 25,382,440 outputs
Outputs from Acta Medica Portuguesa
#196
of 451 outputs
Outputs of similar age
#236,395
of 323,945 outputs
Outputs of similar age from Acta Medica Portuguesa
#2
of 4 outputs
Altmetric has tracked 25,382,440 research outputs across all sources so far. This one is in the 18th percentile – i.e., 18% of other outputs scored the same or lower than it.
So far Altmetric has tracked 451 research outputs from this source. They receive a mean Attention Score of 1.9. This one has gotten more attention than average, scoring higher than 53% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 323,945 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 22nd percentile – i.e., 22% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 4 others from the same source and published within six weeks on either side of this one. This one has scored higher than 2 of them.