Which of the following is the gene for Duchenne muscular dystrophy?
Correct Answer: Dystrophin gene
Description: Ans. d. Dystrophin geneRef: Robbins and Cotran Pathologic Basis of Disease 9th Ed; Page No-1242X-linked disorder typically due to Frameshift or nonsense mutations - truncated or absent dystrophin protein - progressive myofiber damage.Most severe and most common form of muscular dystrophy.Clinically manifest by the age of 5 years.It is due to mutation of DMD gene at X p 21 encodes 427-kD dystrophin proteinA DMD patient has no dystrophin.Loss of dystrophin results in myonecrosis.Weakness begins in pelvic girdle muscles and progresses superiorly.Pseudohypertrophy of calf muscles due to fibro fatty replacement of muscle.Waddling gait.Dilated cardiomyopathy is common cause of death.Increases CK and aldolase are seen; genetic testing confirms diagnosis.
Category:
Pathology
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