Many cases of myoclonus-dystonia (M-D) are caused by mutations in the epsilon-sarcoglycan (SGCE) gene. We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of them, suggesting that M-D is genetically heterogeneous.
This research output has an Altmetric Attention Score of 3. 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 14 July 2018.
All research outputs
#8,300,669
of 24,833,004 outputs
Outputs from Movement Disorders
#2,633
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Outputs of similar age
#19,871
of 57,757 outputs
Outputs of similar age from Movement Disorders
#7
of 19 outputs
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