Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics

Steven A. Greenberg, Mohammad Salajegheh, Daniel P. Judge, Matthew W. Feldman, Ralph W. Kuncl, Zachary Waldon, Hanno Steen, Kathryn R. Wagner

Research output: Contribution to journalArticlepeer-review

Abstract

Limb girdle muscular dystrophy 1D/1E (OMIM nomenclature LGMD1D, Human Gene Nomenclature Committee LGMD1E), a skeletal and cardiac myopathy, has previously been linked to chromosome 6q23. We used laser capture microdissection to isolate cytoplasmic inclusions from skeletal muscle from a patient with LGMD1D/1E, performed mass spectrometry-based proteomics on these minute inclusions, and identified through bioinformatics desmin as their major constituent. Sequencing in this patient and family members identified the genetic basis of the previously reported 6q23 linked LGMD1D/1E to be due to an intron splice donor site mutation (IVS3+3A>G) of the desmin gene located on chromosome 2q35. Ann Neurol 2011

Original languageEnglish (US)
Pages (from-to)141-145
Number of pages5
JournalAnnals of neurology
Volume71
Issue number1
DOIs
StatePublished - Jan 2012

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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