Audio Qbank – HY USMLE Q #472 – MSK / Genetics

A 3-year-old boy is brought to the pediatrician for slow motor development. He has a waddling gait and calf muscle enlargement. He frequently uses his arms to support himself. Serum creatine kinase is elevated. Which of the following combinations best describes this patient’s condition?

Autosomal dominant; cytoskeletal defect; fibroadipose tissue deposition
Autosomal dominant; cytoskeletal defect; ragged red fibers
Autosomal dominant; dynein arm defect; fibroadipose tissue deposition
Autosomal dominant; dynein arm defect; ragged red fibers
Mitochondrial; cytoskeletal defect; fibroadipose tissue deposition
Mitochondrial; cytoskeletal defect; ragged red fibers
Mitochondrial; dynein arm defect; fibroadipose tissue deposition
Mitochondrial; dynein arm defect; ragged red fibers
X-linked recessive; cytoskeletal defect; fibroadipose tissue deposition
X-linked recessive; cytoskeletal defect; ragged red fibers
X-linked recessive; dynein arm defect; fibroadipose tissue deposition
X-linked recessive; dynein arm defect; ragged red fibers