Title: | Desmin-related myopathy : clinical, electrophysiological, radiological, neuropathological and genetic studies |
Journal : | Journal of the neurological sciences, 219, 1-2 |
Authors: | Olive M ; Goldfarb L ; Moreno D ; Laforet E ; Dagvadorj A ; Sambuughin N ; Martinez-Matos JA ; Martinez F ; Alio J ; Farrero E ; Ferrer I |
Material Type: | Article |
Publication Date: | 2004 |
Size: | p. 125-137 |
Languages: | English |
Keywords : | actin ; alpha-B-crystallin ; amyloid proteins ; clinical presentation ; creatine kinase ; desmin ; desminopathy ; electrodiagnosis ; eye lens ; family trees ; genetic mutations ; heart failure ; immunohistochemistry ; muscle biopsies ; muscle weakness ; respiratory failure ; skeletal muscle ; Spain ; synemin ; ubiquitin ; X-ray computed tomography |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15050448 |