Title: | Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene : clinical and pathological variability within a kindred |
Journal : | Neuromuscular disorders : NMD, 16, 2 |
Authors: | Hutchinson DO ; Charlton A ; Laing NG ; Ilkovski B ; North KN |
Material Type: | Article |
Publication Date: | 2006 |
Size: | p. 113-121 |
Languages: | English |
Keywords : | ACTA1 gene ; actin ; clinical variations ; electron microscopy ; family ; family trees ; genetic linkage ; genetic mutations ; immunohistochemistry ; intranuclear rods ; muscle biopsies ; muscle weakness ; nemaline myopathy type 3 ; photographies ; skeletal muscle |
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=16427282&query_hl=7&itool=pubmed_docsum |