A team of University of Missouri researchers have found that targeting a synthetic molecule to a specific gene could help the severity of the disease Spinal Muscular Atrophy (SMA) – the leading genetic cause of infantile ...
Nov 21, 2011
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A newly discovered mutation in the INPP5K gene, which leads to short stature, muscle weakness, intellectual disability, and cataracts, suggests a new type of congenital muscular dystrophy. The research was published in the ...
Feb 9, 2017
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Until recently, babies and children with spinal muscular atrophy (SMA) lacked any type of treatment capable of stopping the neuromuscular disease from progressing. In SMA, damaged motor neurons in the spinal cord fail to ...
Aug 20, 2021
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Muscle withering can occur as part of the progression of many diseases, including cancer and muscular dystrophy, as well as during the normal aging process. Cellular organelles known as mitochondria provide energy for muscle ...
Mar 13, 2013
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(HealthDay)—It takes just two weeks of physical inactivity for those who are physically fit to lose a significant amount of their muscle strength, new research indicates.
Jul 8, 2015
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Investigators at Nationwide Children's Hospital may have discovered a biological explanation for why low levels of oxygen advance spinal muscular atrophy (SMA) symptoms and why breathing treatments help SMA patients live ...
Aug 21, 2012
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Johns Hopkins researchers along with academic and drug industry investigators say they have identified a new biological target for treating spinal muscular atrophy. They report they have evidence that an experimental medicine ...
Jan 9, 2017
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Muscle dystrophy describes a set of diseases that causes the weakening and loss of muscle. Ullrich congenital muscular dystrophy is a rare disease that is the result of a mutation in one or more three COL6 genes, resulting ...
Dec 2, 2021
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Standing up from a chair, climbing stairs, brushing one's hair—all can be a struggle for people with a rare form of muscular dystrophy that causes progressive weakness in the shoulders and hips. Over time, many such people ...
Jun 3, 2019
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(Medical Xpress)—Muscular dystrophy is caused by the largest human gene, a complex chemical leviathan that has confounded scientists for decades. Research conducted at the University of Missouri and described this month ...
Jan 22, 2013
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