title: Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics.
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.
authors.affiliation: Department of Neurology, Division of Neuromuscular Disease, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA. sagreenberg@partners.org
authors.forename: Steven A
authors.initials: SA
authors.lastname: Greenberg
authors.forename: Mohammad
authors.initials: M
authors.lastname: Salajegheh
authors.forename: Daniel P
authors.initials: DP
authors.lastname: Judge
authors.forename: Matthew W
authors.initials: MW
authors.lastname: Feldman
authors.forename: Ralph W
authors.initials: RW
authors.lastname: Kuncl
authors.forename: Zachary
authors.initials: Z
authors.lastname: Waldon
authors.forename: Hanno
authors.initials: H
authors.lastname: Steen
authors.forename: Kathryn R
authors.initials: KR
authors.lastname: Wagner
mesh_terms: D000328:Adult; D006801:Humans; D061346:Laser Capture Microdissection / Q000379:methods*; D008297:Male; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics*; D010375:Pedigree; D040901:Proteomics / Q000379:methods*