Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3 |
| |
| Authors: | Yuji Mizuno Annibale A Puca Kristine F O'Brien Alan H Beggs and Louis M Kunkel |
| |
| Institution: | (1) Howard Hughes Medical Institute, Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;(2) Department of Neurology, Gunma University School of Medicine, 3-39-22 Showa, Maebashi Gunma, 371-8511, Japan;(3) Division of Genetics, Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA |
| |
| Abstract: | Background Desmuslin is an α-dystrobrevin-interacting protein expressed primarily in heart and skeletal muscle. The desmuslin protein interacts with and is closely related to desmin, a protein encoded by a locus mutated in some forms of hereditary distal myopathy. As a muscle-specific intermediate filament protein, desmuslin is also a candidate for myopathies of unknown etiology. |
| |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ |
|
