Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity

Anna Rita Bentivoglio, Em Valente, A Misbahuddin, F Brancati, Mr Placzek, B Garavaglia, S Salvi, A Nemeth, C Shaw Smith, Nardo Nardocci, A Berardelli, R Eleopra, B Dallapiccola, Tt Warner

Risultato della ricerca: Contributo in rivistaArticolo in rivista

38 Citazioni (Scopus)

Abstract

The epsilon-sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus-dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with autosomal dominant myoclonus-dystonia. To evaluate the relevance of SGCE in myoclonus-dystonia, we sequenced the entire coding region of the epsilon-sarcoglycan gene in 16 patients with either sporadic or familial myoclonus-dystonia. No mutations were found. This study suggests that epsilon-sarcoglycan does not play an important role in sporadic myoclonus-dystonia and supports genetic heterogeneity in familial cases.
Lingua originaleEnglish
pagine (da-a)1047-1051
Numero di pagine5
RivistaMovement Disorders
Volume18
DOI
Stato di pubblicazionePubblicato - 2003

Keywords

  • Adolescent
  • Adult
  • Aged
  • Cytoskeletal Proteins
  • Dystonic Disorders
  • Female
  • Genetic Heterogeneity
  • Humans
  • Male
  • Membrane Glycoproteins
  • Middle Aged
  • Myoclonus
  • Pedigree
  • Polymerase Chain Reaction
  • Sampling Studies
  • Sarcoglycans
  • Syndrome

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