Limb Girdle Muscular Dystrophies

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Name: Fasiha Ikhlaque Shaikh [18593940] Question: There are a number of different limb girdle muscular dystrophies(LGMD). Describe LGMD 2B. What are the main similarities & differences between LGMD 2B and the other LGMD’s? How does the reduction or absence of dysferlin in the skeletal muscle lead to the clinical symptoms? Description of the limb girdle muscular dystrophies [LGMD2B] Autosomal recessive Limb girdle muscular dystrophy 2B also known as dysferlinopathy, is due to the mutations in the gene dysferlin which codes for the protein involved in the membrane repair. It is ultimately mapped to the chromosome region 2p13 (C. Angelini*{, 2010)[1] which is caused by primarily, proximal weakness. (Aoki, 2004) [2] LGMD type 2 are in the genetically and clinical heterogeneous group of disorders, characterized by progressive involvement and wasting of limb girdle muscles (C. Angelini*{, 2010)[1] Calf, deltoid hypertrophy are the clinical features and cellular defect would be the loss of Ca2+-regulated membrane repair. (Hoffman, 2010) [3] Also, since due to an absence of the protein dysferlin, there will be a failure of damaged muscle fiber…show more content…
It is ultimately mapped to the chromosome region 2p13 (C. Angelini*{, 2010)[1] which is caused by primarily, proximal weakness. (Aoki, 2004) [2] LGMD type 2 are in the genetically and clinical heterogeneous group of disorders, characterized by progressive involvement and wasting of limb girdle muscles (C. Angelini*{, 2010)[1] Calf, deltoid hypertrophy are the clinical features and cellular defect would be the loss of Ca2+-regulated membrane repair. (Hoffman, 2010) [3] Also, since due to an absence of the protein dysferlin, there will be a failure of damaged muscle fiber repair which is likely to impair recovery from exercise induced damage

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