Washington: Scientists have identified a genetic mutation which they claim causes a rare form of spinal muscular atrophy, an inherited disease that causes progressive muscle degeneration and weakness. "Typical spinal muscular atrophies begin in infancy or early childhood and are fatal, involving all motor neurons, but spinal muscular atrophy with lower extremity predominance, (SMA-LED) predominantly affects nerve cells controlling muscles of the legs. "It is not fatal and the prognosis is good, although patients usually are moderately disabled and require assistive devices such as bracing and wheelchairs throughout their lives," said Robert H Baloh, who led the study at Cedars-Sinai Medical Center. It is a molecule inside cells that acts as a motor to transport cellular components. Using cells cultured from patients, Baloh`s group showed that the mutation disrupts this motor`s function.
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