Title: | A mutation in myotilin causes spheroid body myopathy |
Journal : | Neurology, 65, 12 |
Authors: | Foroud T ; Pankratz N ; Batchman AP ; Pauciulo MW ; Vidal R ; Miravalle L ; Goebel HH ; Cushman LJ ; Azzarelli B ; Horak H ; Farlow M ; Nichols WC |
Material Type: | Article |
Publication Date: | 2005 |
Size: | p. 1936-1940 |
Languages: | English |
Keywords : | candidate genes ; chromosome 5 ; family trees ; gene localization ; genetic linkage ; genetic mutations ; muscle biopsies ; myofibrillar myopathy ; MYOT gene ; myotilin ; myotilin-related limb-girdle muscular dystrophy ; skeletal muscle ; spheroid body myopathy |
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=16380616&query_hl=2&itool=pubmed_docsum |