Title: | Extreme variability of phenotype in patients with an identical missense mutation in the Lamin A/C gene. From congenital onset with severe phenotype to milder classic Emery-Dreifuss variant |
Journal : | Archives of neurology, 61, 5 |
Authors: | Mercuri E ; Poppe M ; Quinlivan R ; Messina S ; Kinali M ; Demay L ; Bourke J ; Richard P ; Sewry C ; Pike M ; Bonne G ; Muntoni F ; Bushby K |
Material Type: | Article |
Publication Date: | 05/2004 |
Size: | p. 690-694 |
Languages: | English |
Keywords : | autosomal dominant Emery-Dreifuss muscular dystrophy ; autosomal recessive Emery-Dreifuss muscular dystrophy ; case studies ; genetic mutations ; laminins ; LMNA gene ; MRI ; muscle weakness ; photographies |
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=15148145 |
Pubmed / DOI : | DOI : 10.1001/archneur.61.5.690 |