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Case 3: Fetal intracardiac tumour – A feature of a genetic disease?

✍ Scribed by Emine Dibek Misirlioglu; Didem Aliefendioglu; Nursel Alpan; Alev Güven; Nur Peltek

Book ID
114814828
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
85 KB
Volume
95
Category
Article
ISSN
0803-5253

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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.