Overview

myotilin


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A cytoskeletal protein (titin immunoglobulin domain protein, TTID, 498 aa) that colocalizes with α-actinin in the I band of the sarcomere and has two immunoglobulin domains similar to those in titin. Mutations in the gene lead to myotilinopathy, a form of myofibrillar myopathy (see muscular dystrophy) in which there is myofibrillar degradation and progressive muscle weakness.

Subjects: Medicine and Health.


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