New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease.

Abstract excerpt

In this report, we describe a new mutation located in the coiled 1B domain of desmin and associated with a predominant cardiac involvement and a high degree of cardiac sudden death in a large Indian pedigree with 12 affected members. The index cases was 38-year-old man who presented with progressive difficulty in gripping footwear of 5 years duration with the onset in the left lower limb followed by right lower...

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