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Anatomy · Medical genetics: Duchenne and Becker muscular dystrophy
Sample itemDuchenne and Becker muscular dystrophy both arise from deletions in the dystrophin gene on Xp21, yet Duchenne is much more severe. What explains the difference?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Frameshift deletions abolish dystrophin, while in-frame ones leave a partial protein
Dystrophin is X-linked recessive. Deletions that shift the reading frame produce a premature stop codon and absent protein (Duchenne), whereas in-frame deletions yield a shortened but partly functional protein (Becker).
Option by option
A. Duchenne is autosomal recessive and Becker is X-linked
Both conditions are X-linked recessive.
B. Duchenne arises from a trinucleotide repeat expansion
Both are caused by deletions or point mutations rather than by repeat expansion.
C. Frameshift deletions abolish dystrophin, while in-frame ones leave a partial protein (correct)
Correct. The reading-frame rule explains the severity difference.
D. Becker mutations involve a different gene on chromosome 4
Both are caused by the same gene on Xp21.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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