Title: | Congenital muscular dystrophies : a brief review |
Journal : | Seminars in pediatric neurology, 18, 4 |
Authors: | Bertini E ; D'Amico A ; Gualandi F ; Petrini S |
Material Type: | Article |
Publication Date: | 2011 |
Size: | p. 277-288 |
Languages: | English |
Keywords : | clinical trials ; clinical variations ; COL6 gene ; congenital muscular dystrophy ; diagnosis ; genetic counseling ; genetic heterogeneity ; genetic mutations ; genotype-phenotype correlation ; LAMA2 gene ; LMNA gene ; medical treatment ; multidisciplinary consultations ; muscle biopsies ; prenatal diagnosis ; review article ; SELENON gene ; 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=Citation&list_uids=22172424 |
Pubmed / DOI : | DOI : 10.1016/j.spen.2011.10.010 |