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Medicine

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Neurology

Question
2 out of 19
 

Not a limb girdle dystrophy (AIIMS Nov 2011)



A Sarcoglycanopathy
B Dystrophinopathy

C Dysferrinopathy
D Calpainopathy

Ans. B

Dystrophinopathy

Extra Edge:Gene or locus in limb-girdle muscular dystrophy – (Ref. Hari-2683)

1). Calpain – 3

2). Sarcoglycan

3). Dysferlin

4). Titin

2). Diagnosis.Patients typically have an elevated serum CK level. EMG demonstrates a "myopathic" pattern (i.e., brief, small amplitude muscle potentials. A muscle biopsy is often informative. Genetic studies are increasingly pursued.

Neurology Flashcard List

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