2 results match your criteria: "Center for Individualized Medicine Mayo Clinic Rochester Minnesota USA.[Affiliation]"
Mitochondria play a variety of roles in the cell, far beyond their widely recognized role in ATP generation. One such role is the regulation and sequestration of calcium, which is done with the help of the mitochondrial calcium uniporter (MCU) and its regulators, MICU1 and MICU2. Genetic variations in MICU1 and MICU2 have been reported to cause myopathy, developmental disability and neurological symptoms typical of mitochondrial disorders.
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- A child had weak muscles, was behind in development, and had an unusual brain scan.
- Scientists found a new change in a gene called GFAP, labeled p.R376W, that might cause problems.
- They decided that this change is dangerous and likely causes a disease called Alexander disease.