Muscular dystrophy Quiz: Ace Your Exams

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A 3-year-old boy is brought to the office by his parents for the evaluation of frequent falls. The parents report that the patient has had difficulty running and walking up stairs for the past year, and now they have noticed numerous unprovoked falls. Family history is unremarkable. Vitals are within normal limits. Physical examination shows enlarged and nontender calves bilaterally. When asked to rise from the floor, the boy uses hand support to push himself to an upright position. Serum creatinine kinase is 14,000 U/L. Molecular genetic testing reveals a large defective muscle protein due to the loss of 508 amino acid residues. Based on the suspected diagnosis, which of the following mutations is most likely involved in the pathogenesis of this patient’s condition?

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Repeat expansion mutation

Missense mutation

Frameshift mutation

Silent mutation

Conservative mutation