Article
In vivo characterization of mutant myotilins.
The American journal of pathology - 1 Apr 2012
Keduka Etsuko, Hayashi Yukiko K, Shalaby Sherine, Mitsuhashi Hiroaki, Noguchi Satoru, Nonaka Ikuya, Nishino Ichizo
Abstract excerpt
Myofibrillar myopathy (MFM) is a group of disorders that are pathologically defined by the disorganization of the myofibrillar alignment associated with the intracellular accumulation of Z-disk-associated proteins. MFM is caused by mutations in genes encoding Z-disk-associated proteins, including myotilin. Although a number of MFM mutations have been identified, it has been difficult to elucidate the precise...
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