Title: | Variability of the recessive oculopharyngeal muscular dystrophy phenotype |
Journal : | Muscle & Nerve, 35, 5 |
Authors: | Semmler A ; Kress W ; Vielhaber S ; Schröder R ; Kornblum C |
Material Type: | Article |
Publication Date: | 2007 |
Size: | p. 681-684 |
Languages: | English |
Keywords : | autosomal recessive inheritance ; case studies ; disease severity ; GCG triplet repeats ; molecular genetics ; oculopharyngeal muscular dystrophy ; PABPN1 gene ; phenotypic heterogeneity ; skeletal muscle |
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=17206657&query_hl=9&itool=pubmed_docsum |