Title: | Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation |
Journal : | Neurology, 66, 5 |
Authors: | Del Bo R ; Locatelli F ; Corti S ; Scarlato M ; Ghezzi S ; Prelle A ; Fagiolari G ; Moggio M ; Carpo M ; Bresolin N ; Comi GP |
Material Type: | Article |
Publication Date: | 2006 |
Size: | p. 752-754 |
Languages: | English |
Keywords : | autosomal dominant inheritance ; CMT2D ; distal spinal muscular atrophy ; electron microscopy ; family ; family trees ; GARS1 gene ; genetic mutations ; histochemistry ; Italy ; molecular genetics ; muscle biopsies ; 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=16534118&query_hl=7&itool=pubmed_docsum |