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Clinical Genetics and Bioinformatics

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A progressive disease that often involves complex, involuntary, jerky, writhing movements of entire limbs, and severe mental deterioration, is

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Which statement about Huntington's disease is correct?

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Which of the following clinical characteristics is most commonly associated with myotonic dystrophy type 1?
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What testing material is used for SMA newborn screening?

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CAG trinucleotide repeat expansion can be used to diagnose which of the following genetic disorder?

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A genetic disease that results in degeneration of the anterior horn cells and muscle weakness

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Which of the following clinical features is typical in patients with Duchenne muscular dystrophy?

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Which statement about Myotonic Dystrophy type 1 (DM1) is correct?

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A 20-year-old man has exhibited slowly progressive muscle weakness over the past 5 years. He has no myalgias. He now has difficulty ambulating and picking up heavy objects, even though he used to be a weightlifter. On physical examination there is 4/5 motor strength in proximal muscle groups. Laboratory studies show a serum creatine kinase of 1450 U/L. A muscle biopsy immunohistochemical staining shows focal positivity for dystrophin around the fibers. Which of the following is the most likely diagnosis?

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Which of the following CAG repeats would indicate a person will develop Huntington‘s disease?

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