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Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia

Overview of attention for article published in European Journal of Medical Genetics, October 2017
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Mentioned by

twitter
3 tweeters

Citations

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2 Dimensions

Readers on

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8 Mendeley
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Title
Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia
Published in
European Journal of Medical Genetics, October 2017
DOI 10.1016/j.ejmg.2017.07.010
Pubmed ID
Authors

Malavika Hebbar, Katta M. Girisha, Anshika Srivastava, Stephanie Bielas, Anju Shukla

Abstract

We ascertained a child with early onset cerebellar ataxia and identified a novel frameshift deletion, c.359del [p. (Pro120Leufs*2), NM_052865.2] in exon 2 of MGME1 (mitochondrial genome maintenance exonuclease 1) by exome sequencing. Variations in MGME1 have been reported to cause mitochondrial DNA (mtDNA) depletion syndrome 11 (MIM #615084) in an earlier work. The phenotype included progressive external ophthalmoplegia, emaciation, respiratory failure and late onset progressive ataxia. However, the child presented here has early onset progressive ataxia, speech delay, microcephaly, cerebellar atrophy and fundus albipunctatus. This is the second report of a mutation in MGME1 and describes a more severe phenotype.

Twitter Demographics

The data shown below were collected from the profiles of 3 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 8 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 8 100%

Demographic breakdown

Readers by professional status Count As %
Other 1 13%
Student > Bachelor 1 13%
Professor 1 13%
Student > Ph. D. Student 1 13%
Student > Master 1 13%
Other 2 25%
Unknown 1 13%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 4 50%
Medicine and Dentistry 2 25%
Neuroscience 1 13%
Unknown 1 13%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 07 August 2017.
All research outputs
#7,502,634
of 12,443,702 outputs
Outputs from European Journal of Medical Genetics
#189
of 499 outputs
Outputs of similar age
#117,028
of 219,464 outputs
Outputs of similar age from European Journal of Medical Genetics
#11
of 23 outputs
Altmetric has tracked 12,443,702 research outputs across all sources so far. This one is in the 37th percentile – i.e., 37% of other outputs scored the same or lower than it.
So far Altmetric has tracked 499 research outputs from this source. They receive a mean Attention Score of 2.0. This one has gotten more attention than average, scoring higher than 57% 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 219,464 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 42nd percentile – i.e., 42% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 23 others from the same source and published within six weeks on either side of this one. This one is in the 43rd percentile – i.e., 43% of its contemporaries scored the same or lower than it.