Title: | Severe phenotype in infantile facioscapulohumeral muscular dystrophy |
Journal : | Neuromuscular disorders : NMD, 16, 9-10 |
Authors: | Klinge L ; Eagle M ; Haggerty ID ; Roberts CE ; Straub V ; Bushby KM |
Material Type: | Article |
Publication Date: | 2006 |
Size: | p. 553-558 |
Languages: | English |
Keywords : | cardiomyopathy ; children ; chromosome 4 ; D4Z4 locus ; diagnosis ; disease severity ; facioscapulohumeral muscular dystrophy ; genetic mutations ; lordosis ; muscle weakness ; night hypoventilation ; photographies ; respiratory failure ; skeletal muscle ; somatic mosaicism |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=16934468&query_hl=25&itool=pubmed_docsum |