Associated Papers
Molecular basis of F-actin regulation and sarcomere assembly via myotilin.
Kostan J et al.
Plos Biology, 2021
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
Wadmore K et al.
International Journal of Molecular Sciences, 2021
Conformational plasticity and evolutionary analysis of the myotilin tandem Ig domains.
Puž V et al.
Scientific Reports, 2017
Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy.
Rudolf G et al.
Journal of Neuromuscular Diseases, 2016
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.
Izumi R et al.
Neurology. Genetics, 2015
Novel recessive myotilin mutation causes severe myofibrillar myopathy.
Schessl J et al.
Neurogenetics, 2014
In vivo characterization of mutant myotilins.
Keduka E et al.
The American Journal of Pathology, 2012
Myotilin dynamics in cardiac and skeletal muscle cells.
Wang J et al.
Cytoskeleton (hoboken, N.j.), 2011
A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).
Reilich P et al.
Journal of Neurology, 2011
Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient.
Shalaby S et al.
Journal of Neuropathology and Experimental Neurology, 2009
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