HY USMLE Q #601 – MSK/Anatomy

A 3-year-old boy is brought to the physician for a routine health maintenance examination. He has history of slow motor development, waddling gait, and calf muscle enlargement. Serum creatine kinase is markedly increased. Which of the following is most likely to be seen in this patient?

Cytoskeletal disruption
Debranching enzyme deficiency
Impaired synthesis of glucose from glucose-6-phosphate
Failure of mannose phosphorylation
Swelling of rough endoplasmic reticulum