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Pathology General pathology e70b985b

Not a chromosoal breakage syndrome

A
Fragile X syndrome
B
Bloom syndrome
C
Ataxia telangiectasia
D
Duchenne muscular dystrophy
High-Yield Explanation
Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. It is one of nine types of muscular dystrophy. DMD is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. Symptom onset is in early childhood, usually between ages 3 and 5. The disease primarily affects boys, but in rare cases it can affect girls.DMD has an X-linked recessive inheritance pattern and is passed on by the mother, who is referred to as acarrier.

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