ABPMR Neuromuscular Medicine Practice Questions - ABPMR Neuromuscular Medicine Subspecialty Certifying Examination Exam

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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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