In a paper published in the September issue of Nature Geneticsresearchers from the Muscular Dystrophy Association reportthey have discovered a segment of genetic material ofgenerally shorter than normal length in people who havefacioscapulohumeral (FSH) muscular dystrophy. The segment islocated in the region of chromosone 4 where the defective generesponsible for FSH is known to be located.
FSH dystrophy occurs in one in 20,000 people normally duringtheir teens or early 20s. It causes progressive weakness in themuscles of the face, shoulders and upper arms.
Jane Hewitt of St. Mary's Hospital Medical School in London andRune Frants of Leiden University, the Netherlands collaboratedin the research. Hewitt's research identified the chromosone 4segment, and Frants supervised an international research team.
The abnormal chromosone 4 segment was found to be inheritedalong with the disease in more than 80 percent of families inthe study and in persons with the disease but with no familyhistory of it.
Researchers are now searching for the defective gene thatcauses the disorder.
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