Title: | Proximal myotonic myopathy : a new dominant disorder with myotonia, muscle weakness, and cataracts |
Journal : | Neurology, 44 |
Authors: | Ricker K ; Koch MC ; Lehmann-Horn F ; Pongratz D ; Otto M ; Heine R ; Moxley RT III |
Material Type: | Article |
Publication Date: | 1994 |
Size: | p. 1448-1452 |
Languages: | English |
Keywords : | case studies ; cataract ; CLCN1 gene ; CTG triplet repeats ; electrocardiography ; electromyography ; family trees ; genetic linkage ; genetic mutations ; muscle biopsies ; muscle stiffness ; muscle weakness ; myotonic dystrophy type 2 ; nerve conduction ; neurological examination ; SCN4A gene ; skeletal muscle |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=8058147&ordinalpos=3&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum |