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

Molly Sheridan, A. Bytyci Telegrafi, V. Stinnett, Cc Umeh, Z. Mari, Ted M Dawson, Joann N Bodurtha, Denise Batista

Research output: Contribution to journalArticle

Abstract

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 (

Original languageEnglish (US)
Pages (from-to)368-372
Number of pages5
JournalClinical Genetics
Volume84
Issue number4
DOIs
StatePublished - Oct 2013

Fingerprint

Silver-Russell Syndrome
Sarcoglycans
Chromosomes, Human, Pair 7
Movement Disorders
Mothers
Mutation
Genes
Trisomy mosaic Chromosome 7
Myoclonic dystonia

Keywords

  • Epsilon-sarcoglycan
  • Maternal uniparental disomy of chromosome 7
  • Myoclonus-dystonia
  • Silver-Russell syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7. / Sheridan, Molly; Bytyci Telegrafi, A.; Stinnett, V.; Umeh, Cc; Mari, Z.; Dawson, Ted M; Bodurtha, Joann N; Batista, Denise.

In: Clinical Genetics, Vol. 84, No. 4, 10.2013, p. 368-372.

Research output: Contribution to journalArticle

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