]> 2026-07-31T09:42:09+00:00 WBR1020 0 en A CGG expansion that results in the disruption of the promoter of the dystrophin gene A CGG expansion results in Fragile X syndrome due to an X-linked defect that affects methylation and expression of the ''FMR1'' gene. Fragile X syndrome is not caused by mutation in the dystrophin gene. A point mutation in the dystrophin gene DMD results from a frameshift mutation, not from a point mutation. A translocation that results in the disruption of the dystrophin gene A frameshift mutation, not a translocation, causes a deletion in the dystrophin gene. A recombination event in the dystrophin gene that gives rise to a frameshift mutation Duchenne Muscular Dystrophy (DMD) is an X-linked frameshift mutation caused by the deletion of segments of the dystrophin gene. A CTG expansion that results in the disruption of the dystrophin gene A CTG expansion causes myotonic dystrophy. it is not associated with disruption of the dystrophin gene. Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder caused by frameshift mutation due to deletion of segments of the dystrophin gene. The mutation results in the acceleration of muscle breakdown. Clinical manifestations of DMD typically start at early age before 5 years of age and include proximal muscle weakness, calf pseudohypertrophy, and positive gower's sign (patients walk up their own body and use both hands and feet to stand up from a squatting position).<br/> '''Educational Objective:''' Duchenne Muscular Dystrophy (DMD) is an X-linked frameshift mutation caused by the deletion of segments of the dystrophin gene.<br/> '''References:''' First Aid 2015 page 84. Genetics A 2-year-old boy is brought to the physician's office for muscle weakness. The mother explains that the boy walks differently than his siblings his age, and when he tries to stand up from a squatting position, he walks up his own body using both hands and feet. The physician suspects the patient has an X-linked recessive congenital disease. Both parents deny any family history of similar symptoms. Which of the following genetic mechanisms best explains the patient's underlying condition? D Musculoskeletal/Rheumatology 2020-10-28T02:23:58Z 2459150.5999769 WBR1020