Article
Diabetes in the young - a case of Alström syndrome with myopathy.
The journal of the Royal College of Physicians of Edinburgh - 1 Mar 2015
Bronson S C, Anand Moses C R, Periyandavar I, Dharmarajan P, Suresh E, Shanmugam A, Vasuki R, Venkatesh D, Amudha J
Abstract excerpt
Alström syndrome is a rare ciliopathy affecting about 1 in 1,000,000 individuals. It is characterised by cone-rod dystrophy, insulin resistance, diabetes mellitus, cardiomyopathy, renal failure and hypogonadism. Progressive multi-organ dysfunction eventually leads to death. Only about 800 patients with this disorder have been identified so far. The diagnosis of Alström syndrome is critical as it can easily be...
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