Title: | Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3 |
Journal : | Human molecular genetics, 20, 17 |
Authors: | Ermolova N ; Kudryashova E ; DiFranco M ; Vergara J ; Kramerova I ; Spencer MJ |
Material Type: | Article |
Publication Date: | 2011 |
Size: | p. 3331-3345 |
Languages: | English |
Keywords : | calpain 3 ; Calpain-3-related limb-girdle muscular dystrophy R1 ; CAPN3 gene ; fluorescence ; genetic mutations ; immunohistochemistry ; limb girdle muscular dystrophy ; mouse model ; muscle strength assessment ; PCR ; quadriceps femoris muscles ; research prospects ; soleus muscles ; titin ; Western blot |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/pubmed/21624972 |
Pubmed / DOI : | DOI : 10.1093/hmg/ddr239 |