Title: | DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy |
Journal : | Neuromuscular disorders : NMD, 19, 11 |
Authors: | Flanigan KM ; Dunn DM ; von Niederhausern A ; Howard MT ; Mendell J ; Connolly A ; Saunders C ; Modrcin A ; Dasouki M ; Comi GP ; Del Bo R ; Pickart A ; Jacobson R ; Finkel R ; Medne L ; Weiss RB |
Material Type: | Article |
Publication Date: | 2009 |
Size: | p. 743-748 |
Languages: | English |
Keywords : | Becker muscular dystrophy ; chromosome X ; Duchenne muscular dystrophy ; founder effect ; genetic analysis ; genetic mutations ; Italy ; molecular genetics ; muscle cramps ; nonsense mutations ; prevalence ; rhabdomyolysis ; United States |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/pubmed/19793655?itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum&ordinalpos=4 |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2009.08.010 |