Article
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.
Human mutation - 1 Jan 2005
Frosk Patrick, Greenberg Cheryl R, Tennese Alysa A P, Lamont Ryan, Nylen Edward, Hirst Cheryl, Frappier Danielle, Roslin Nicole M, Zaik Michaela, Bushby Kate, Straub Volker, Zatz Mayana, de Paula Flavia, Morgan Kenneth, Fujiwara T Mary, Wrogemann Klaus
Abstract excerpt
Limb girdle muscular dystrophy (LGMD) is common in the Hutterite population of North America. We previously identified a mutation in the TRIM32 gene in chromosome region 9q32, causing LGMD2H in approximately two-thirds of the 60 Hutterite LGMD patients studied to date. A genomewide scan was undertaken in five families who did not show linkage to the LGMD2H locus on chromosome 9. A second LGMD locus, LGMD2I, was...
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