Title: | A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene |
Journal : | European journal of neurology, 14, 7 |
Authors: | Matsubara E ; Tsuchiya A ; Minami N ; Nishino I ; Pappolla MA ; Shoji M ; Abe K |
Material Type: | Article |
Publication Date: | 2007 |
Size: | p. 819-822 |
Languages: | English |
Keywords : | Calpain-3-related limb-girdle muscular dystrophy R1 ; CAPN3 gene ; case studies ; creatine kinase ; electromyography ; family trees ; genetic mutations ; knees ; molecular genetics ; MRI ; muscle biopsies ; muscle wasting ; photographies ; skeletal muscle |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=17594342&ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum |