Article
Maintenance of muscle mass, fiber size, and contractile function in mice lacking the Z-disc protein myotilin.
Upsala journal of medical sciences - 1 Jan 2009
Ochala Julien, Carpén Olli, Larsson Lars
Abstract excerpt
BACKGROUND: Myofibrillar myopathies constitute a rare group of congenital neuromuscular disorders, frequently associated with mutations in Z-disc proteins such as myotilin. Myotilin location and interactions with other Z-disc proteins are clearly defined, but its role in the regulation of muscle structure and function remains unknown. The present study aims at investigating this specific role of myotilin....
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