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

• DOI: 10.1002/ana.22649
• Publication Date: 2011-10-17T14:56:43Z
• Authors: Steven A. Greenberg; Mohammad Salajegheh; Daniel P. Judge; Matthew W. Feldman; Ralph W. Kuncl; Zachary Waldon; Hanno Steen; Kathryn R. Wagner
• Keywords: Limb-girdle muscular dystrophy; Laser capture microdissection; Microdissection; Desmin

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 isolate cytoplasmic inclusions from muscle patient with LGMD1D/1E, performed mass spectrometry-based proteomics on these minute inclusions, identified through bioinformatics desmin as their major constituent. Sequencing in this family members the genetic basis of reported 6q23 LGMD1D/1E be due an intron splice donor site mutation (IVS3+3A>G) gene located 2q35.