Title: | Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations |
Journal : | Archives of neurology, 63 |
Authors: | Mercuri E ; Topaloglu H ; Brockington M ; Berardinelli A ; Pichiecchio A ; Santorelli F ; Rutherford MA ; Talim B ; Ricci E ; Voit T ; Muntoni F |
Material Type: | Article |
Publication Date: | 2006 |
Size: | p. 251-257 |
Languages: | English |
Keywords : | alpha-dystroglycan ; brain ; cerebellum ; congenital muscular dystrophy ; cysts ; FKRP gene ; genetic mutations ; genotype-phenotype correlation ; glycolysis ; intellectual developmental disorder ; intelligence ; MRI ; muscle-eye-brain disease related to POMGNT1 ; photographies ; retrospective studies |
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=16476814&query_hl=10&itool=pubmed_docsum |