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ABPMR Neuromuscular Medicine Practice Questions - ABPMR Neuromuscular Medicine Subspecialty Certifying Examination Exam
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Question Number 5
A patient with Kennedy disease (spinobulbar muscular atrophy) presents with proximal weakness, gynecomastia, and perioral fasciculations. What is the underlying genetic mechanism?
CAG trinucleotide repeat expansion in the androgen receptor (AR) gene on Xq12
SMN1 homozygous deletion on chromosome 5q13
SOD1 point mutation on chromosome 21
PMP22 duplication on chromosome 17p
✔ Correct Answer:
CAG trinucleotide repeat expansion in the androgen receptor (AR) gene on Xq12
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