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Patient is experiencing muscle pains and weakness. The patient has trouble rising when laying down and has frequent falls. Symptoms have existed for several years but are becoming progressively worse.
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Patient is experiencing muscle pains and weakness. The patient has trouble rising when laying down and has frequent falls. Symptoms have existed for several years but are becoming progressively worse. Genetic analysis has flagged the following sequence as a possible cause of the symptoms. Please describe your diagnosis and treatment plan for the patient.

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