Title: | The exon 55 deletion in the nebulin gene - One single founder mutation with world-wide occurrence |
Journal : | Neuromuscular disorders : NMD, 19, 3 |
Authors: | Lehtokari VL ; Greenleaf RS ; DeChene ET ; Kellinsalmi M ; Pelin K ; Laing NG ; Beggs AH ; Wallgren-Pettersson C |
Material Type: | Article |
Publication Date: | 2009 |
Size: | p 179 |
Languages: | English |
Keywords : | disease severity ; founder effect ; genetic mutations ; Jews ; NEB gene ; nebulin ; rod myopathy |
Abstract: |
Comment in:
Nemaline myopathy: a tale of two cultures. Dubowitz V. Neuromuscul Disord. 2009 Mar;19(3):177-8. |
Pubmed / DOI : | Pubmed : 19232495 / DOI : 10.1016/j.nmd.2008.12.001 |