Title: | Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3 |
Journal : | Biological chemistry, 386, 1 |
Authors: | Jenne DE ; Kley RA ; Vorgerd M ; Schröder JM ; Weis J ; Reimann H ; Albrecht B ; Nurnberg P ; Thiele H ; Müller CR ; Meng G ; Witt CC ; Labeit S |
Material Type: | Article |
Publication Date: | 2005 |
Size: | p. 61-67 |
Languages: | English |
Keywords : | alternative splicing ; calpain 3 ; Calpain-3-related limb-girdle muscular dystrophy R1 ; family trees ; genetic linkage ; genetic mutations ; histochemistry ; immunofluorescence ; molecular biology ; muscle biopsies ; siblings ; skeletal muscle ; tertiary structure of proteins |
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=15843148&query_hl=14 |