Title: | Phenotypic variability in myotonia congenita |
Journal : | Muscle & Nerve, 32, 1 |
Authors: | Colding-Jorgensen E |
Material Type: | Article |
Publication Date: | 07/2005 |
Size: | p. 19-34 |
Languages: | English |
Keywords : | age ; allelic heterogeneity ; autosomal dominant inheritance ; autosomal recessive inheritance ; chloride channels ; chlorine channel disease ; chromosome 7 ; CLCN1 gene ; disease severity ; family trees ; genetic mutations ; genotype-phenotype correlation ; phenotypic heterogeneity ; review article ; temperature (biochemistry) ; Thomsen myotonia congenita |
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=15786415&query_hl=1 |