Question: Case Study 7 A 19-year-old, patient presents with muscle weakness, severe dehydration, stiffness, dark coloured urine and dizziness. Testing confirms myoglobinuria and rhabdomyolysis. Patient is
Case Study 7 A 19-year-old, patient presents with muscle weakness, severe dehydration, stiffness, dark coloured urine and dizziness. Testing confirms myoglobinuria and rhabdomyolysis. Patient is an amateur athlete but complained of symptoms after going for a long run on Saturday morning and presented at the hospital at 3pm on Saturday afternoon. Patient history identified no family record of this. Whole genome sequencing of the patient and her immediate family was carried out. The resulting sequences are presented below and are to be compared to the human genome (human version hg38). Use the sequences and tools to answer the following questions. Figure 1. Patient family pedigree \fStep by Step Solution
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