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Article

Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM

26 Jun 2006

Abstract excerpt

Myotilin is a muscle-specific Z-disc protein with putative roles in myofibril assembly and structural upkeep of the sarcomere. Several myotilin point mutations have been described in patients with limb-girdle muscular dystrophy type 1A (LGMD1A), myofibrillar myopathy (MFM), spheroid body myopathy (SBM), three similar adult-onset, progressive and autosomal dominant muscular dystrophies. To further investigate...

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PMID: 16801328
DOI: 10.1093/hmg/ddl160

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