Limb girdle muscle dystrophies include all of the following groups of disorders except:
Correct Answer: Dystroglycanopathies
Description: Ans. b. Dystroglycanopathies (Ref: Harrison 19/e p462e-6, 462e-6t. 462e-7t. 18/e pp 3492,3493, 3494)Calpain-J, Sarcoglycans (y,a,b and y) and dysferlin are all examples of defective gene/loeus in Limb girdle dystrophies. Dystrophin is associated with Duchenne's and Becker's type of muscular dystrophies and is not associated with Limb girdle dystrophies."The Limb girdle muscular dystrophies (LGMD) typically manifest with progressive weakness of pelvic and shoulder girdle musculature. Respiratory insufficiency from weakness of diaphragm and cardiomyopathy may occur. However unlike Duchenne dystrophies (Dystrophin) intellectual function remains intact."- Harrison 18/e p3492Progressive Muscular Dystrophies and Defective Gene/proteinDuchenne* DystrophinQBecker's* DystrophinQLimb girdle* Myotilin, Laminin A/c, Caveolin-3* Calpain-3, Dysferlin, y,a,B,y sarcoglycans* Telethonin, Fukutin related protein, Titin, TRIM 32 geneEmery Dreifuss* Emerin, LamininsMyotonic dystrophy* (DM1) Unstable expansion of a CTG trinucleotide repeat in a serine threonine protein kinase gene (named DMPK) on chromosome 19q 13.3 * (DM2) DNA expansion of a CcTG repeat in the ZNF9 gene on chromosome 3q 13.3-q24Fascioscapulohumeral* Deletion distal 4qOculopharyngeal* Expansion Poly-A RNA binding protein.
Category:
Medicine
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now