Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7

Myoclonus-dystonia (M-D) is a movement disorder that is often associated with mutations in epsilon-sarcoglycan (SGCE), a maternally imprinted gene at 7q21.3. We report a 24-year-old male with short stature (<5(th) percentile) and a movement disorder clinically consistent with M-D. SNP array did n...

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Detalhes bibliográficos
Main Authors: Sheridan, Molly B., Telegrafi, Aida Bytyci, Stinnett, Victoria, Umeh, Chizoba C., Mari, Zoltan, Dawson, Ted M., Bodurtha, Joann, Batista, Denise A.S.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3657309/
https://ncbi.nlm.nih.gov/pubmed/23237735
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12075
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