摘要: The backbone of the third filament system sarcomere is huge titin molecule, spanning from sarcomeric Z-disc to M-line. Proteins in direct interaction and functionally integrated with titin, such as calpain 3 telethonin, are part system. provides support contractile systems during development mature states including mechanical properties regulatory signaling functions. first mutations causing human muscle disease were identified 1995, followed by telethonin titin. In spite some early ideas on what going wrong cells based defective proteins, exact molecular pathomechanisms leading atrophy patients these disorders still unknown. However, preparations for trials gene therapy have already been launched, at least calpainopathy.
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