• Science Saturday: Mayo Clinic discovery leads to diagnoses of 9 people with rare form of muscular dystrophy

a medical graphic of DNA in shades of blue, with one section highlighted by a flash of white light

Nine people around the world who have been living with unexplained, muscular dystrophy-like symptoms may now have an answer for what is causing the progressive muscle weakness in their body’s mid-section, arms and legs.

In a new discovery, a collaborative team of scientists led by researchers at Mayo Clinic’s Center for Individualized Medicine has pinpointed alterations in a single gene deep inside these people's genetic blueprint as the root cause of their ultra-rare disorder, known as limb-girdle muscular dystrophy. For some, the onset of debilitating muscle-wasting symptoms began in childhood, while others started having trouble walking, running, climbing stairs and breathing in adulthood.

The new study describing their discovery is published in the American Journal of Human Genetics.

"This is an example of how research uses data and genome sequencing to provide patients with a real answer for what’s causing their symptoms," says Eric Klee, Ph.D., Midwest associate director of research and innovation at the Mayo Clinic Center for Individualized Medicine. Dr. Klee is a lead author of the study.

Read the rest of the article on the Individualized Medicine blog.


Other Mayo Clinic medical research websites: 

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